Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001081150 | SCV000291335 | benign | Autosomal recessive polycystic kidney disease | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000245485 | SCV000315809 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Eurofins Ntd Llc |
RCV000245485 | SCV000331172 | benign | not specified | 2015-07-09 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000589570 | SCV000699867 | benign | not provided | 2016-04-26 | criteria provided, single submitter | clinical testing | Variant summary: The c.5199C>A variant involves the alteration of a non-conserved nucleotide resulting in a synonymous change. 4/5 in silico tools via Alamut predict no significant effect on splicing. The variant was observed in the large and broad cohorts of the ExAC project at an allele frequency of 0.50%, predominantly observed in the African subpopulation at a frequency of 5.2% including 14 homozygous occurrences. This frequency exceeds the maximal expected allele frequency for a pathogenic variant in PKHD1 (0.70%), suggesting this is a benign polymorphism found primarily in population(s) of African origin. One reputable clinical lab has classified the variant as "benign" and multiple publications consider the variant to be a polymorphism. Taken together, this variant has been classified as Benign. |
Illumina Laboratory Services, |
RCV001081150 | SCV001325284 | benign | Autosomal recessive polycystic kidney disease | 2017-11-14 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Gene |
RCV000589570 | SCV001889335 | benign | not provided | 2018-07-14 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001081150 | SCV002078090 | benign | Autosomal recessive polycystic kidney disease | 2017-06-30 | no assertion criteria provided | clinical testing |