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. Author manuscript; available in PMC: 2019 Nov 1.
Published in final edited form as: Hum Mutat. 2018 Nov;39(11):1713–1720. doi: 10.1002/humu.23644

Table 1.

Terms used to describe human racial, ethnic, and ancestry groups on requisition forms for highly productive ClinVar-submitting laboratories. Each term has a number in parentheses after it, which represents the number of forms on which the corresponding term was observed. Theme headers are the MedGen categories used as population descriptors in ClinVar, and terms are matched to these categories.

African American; MedGen:C0085756 Hispanic Americans; MedGen:C0019576
African American (6) Hispanic (9)
African or African American (1) Native Hawaiian or Other Pacific Islander; MedGen:C1513907
Black/African American (2) Native Hawaiian or other Pacific Islander (1)
American Indian or Alaska Native; MedGen:C1515945 Pacific Islander (3)
American Indian / Native American (1) Chinese; MedGen:C0152035 / South East Asian;MedGen:C0238697
Native American (5) Asian (7)
Indigenous (1) Asian/Pacific Islander (1)
Ashkenazi Jew; MedGen:C0337704 E. Indian (1)
Ashkenazi Jewish (7) East Asian e.g. Chinese, Japanese (1)
Jewish (1) South Asian e.g. Indian Pakistani (1)
Jewish-Ashkenazi (1) Southeast Asian e.g. Filipino, Vietnamese (1)
Caucasians; MedGen:C0043157 / European Caucasoid; MedGen:C0682087 Mixed Ethnic Group; MedGen:C0682086
Caucasian (5) Other/Mixed Caucasian (1)
Caucasian/NW European (1) None / Unspecified
Eastern European (1) Adopted (1)
Mediterranean (1) Other:________ (8)
Northern European (1) Unknown (1)
Northern European e.g. British, German (1) [Other: No MedGen Category Clearly Applies]
Portuguese (1) Caribbean (1)
Southern European e.g. Italian, Greek (1) Central/South American (1)
Western European (1) French Canadian or Cajun (1)
White (1) Jewish-Sephardic (1)
White/Caucasian (1) Middle Eastern (4)