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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 2016 Jul 7;99(1):247. doi: 10.1016/j.ajhg.2016.06.001

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

Laura M Amendola, Gail P Jarvik , Michael C Leo, Heather M McLaughlin, Yassmine Akkari, Michelle D Amaral, Jonathan S Berg, Sawona Biswas, Kevin M Bowling, Laura K Conlin, Greg M Cooper, Michael O Dorschner, Matthew C Dulik, Arezou A Ghazani, Rajarshi Ghosh, Robert C Green, Ragan Hart, Carrie Horton, Jennifer J Johnston, Matthew S Lebo, Aleksandar Milosavljevic, Jeffrey Ou, Christine M Pak, Ronak Y Patel, Sumit Punj, Carolyn Sue Richards, Joseph Salama, Natasha T Strande, Yaping Yang, Sharon E Plon, Leslie G Biesecker, Heidi L Rehm ∗∗
PMCID: PMC5005465  PMID: 27392081

(The American Journal of Human Genetics 98, 1067–1076; June 2, 2016)

On page 1072 in the originally published version of this article, PS2 was a typo and should have read PS3 in the following sentence: “The other most common examples of modified strength included the following: PVS1 (a predicted null variant in a gene where LOF is a known mechanism of disease) was downgraded from very strong four times, PS2 (well-established functional studies show a deleterious effect) was downgraded three times, and BS1 (MAF is too high for the disorder) was downgraded three times.” The error has been corrected online, and the authors apologize for the oversight.

Contributor Information

Gail P. Jarvik, Email: pair@u.washington.edu.

Heidi L. Rehm, Email: hrehm@partners.org.


Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

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