Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001080408 | SCV000291332 | benign | Autosomal recessive polycystic kidney disease | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000249499 | SCV000315801 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000590148 | SCV000699856 | benign | not provided | 2016-08-09 | criteria provided, single submitter | clinical testing | Variant summary: The PKHD1 c.3876C>T (p.Thr1292Thr) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. This variant was found in 419/120698 control chromosomes (including 9 homozygotes), predominantly observed in the African subpopulation at a frequency of 0.035141 (359/10216). This frequency is about 5 times the estimated maximal expected allele frequency of a pathogenic PKHD1 variant (0.0070711), suggesting this is a benign polymorphism found primarily in the populations of African origin. In addition, one clinical diagnostic laboratory has classified this variant as benign. Taken together, this variant is classified as Benign. |
Gene |
RCV000590148 | SCV001829619 | likely benign | not provided | 2021-01-22 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001080408 | SCV002080977 | benign | Autosomal recessive polycystic kidney disease | 2017-05-11 | no assertion criteria provided | clinical testing |