Table 1.
No. | Ancestrya | Panel resultsb | NGSc |
---|---|---|---|
1 | Latin American | DHCR7:c.964-1G>C (CSY); IDUA:p.Q70* (CSY) | 8 |
2 | Latin American | HBA:g.-3.7 (GSG) | 8 |
3 | African American | 7 | |
4 | Latin American | 7 | |
5 | W. European | 7 | |
6 | E. European/W. European/S. European | GBA:p.N409S (GSG, CSY) | 6 |
7 | W. European/S. European | 6 | |
8 | W. European | 5 | |
9 | East Asian | 5 | |
10 | South Asian | SMN1:g.delExon7 (GSG) | 5 |
11 | East Asian | SMN1:g.delExon7 (GSG) | 5 |
12 | African American | 4 | |
13 | European/Native American | 4 | |
14 | S. European | 4 | |
15 | African American | HBA:g.-3.7 (GSG) | 3 |
16 | W. European | 3 | |
17 | S. European/E. European/W. European | BLM:p.M1T (GSG) | 3 |
18 | W. European/Latin American | 3 | |
19 | E. European | 3 | |
20 | Asiand | 3 | |
21 | W. European | ACADM:p.K333E (CSY, TAM) | 2 |
22 | W. European/Native American | 2 | |
23 | W. European/S. European | 2 | |
24 | W. European | PYGM:p.R50* (CSY) | 2 |
25 | S. European | 1 | |
26 | W. European/E. European | 1 | |
27 | Latin American | 1 |
Self-identified.
HGVS nomenclature.
Total number of DCV and HLGD variants detected by NGS.
Self-reported ancestry not available. Race/ethnicity taken from GSG report used as indication of ancestry.
CSY, Counsyl; DCV, defined clinical variants; GSG, Good Start Genetics; HLGD, high likelihood of gene dysfunction; NGS, next-generation sequencing; TAM, 23andMe.