Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000153710 | SCV000203268 | benign | not specified | 2014-01-14 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV000153710 | SCV000315840 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000153710 | SCV000917999 | benign | not specified | 2017-09-05 | criteria provided, single submitter | clinical testing | Variant summary: The PKHD1 c.8174-18T>A variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 358/105718 control chromosomes (9 homozygotes), predominantly observed in the African subpopulation at a frequency of 0.03505 (324/9244). This frequency is about 5 times the estimated maximal expected allele frequency of a pathogenic PKHD1 variant (0.0070711), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign. |
Invitae | RCV001274774 | SCV001725257 | benign | Autosomal recessive polycystic kidney disease | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001564981 | SCV001788233 | likely benign | not provided | 2019-02-04 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002498732 | SCV002807813 | likely benign | Polycystic kidney disease 4 | 2021-12-30 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001274774 | SCV001459178 | benign | Autosomal recessive polycystic kidney disease | 2020-09-16 | no assertion criteria provided | clinical testing |