Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000082562 | SCV000114604 | uncertain significance | not provided | 2017-11-06 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000671325 | SCV000796287 | uncertain significance | Autosomal recessive polycystic kidney disease | 2017-12-11 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000671325 | SCV001323630 | uncertain significance | Autosomal recessive polycystic kidney disease | 2017-04-27 | 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Labcorp Genetics |
RCV000671325 | SCV001668767 | likely benign | Autosomal recessive polycystic kidney disease | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000082562 | SCV004227251 | uncertain significance | not provided | 2023-01-27 | criteria provided, single submitter | clinical testing | PM2 |
Gene |
RCV000082562 | SCV005079996 | uncertain significance | not provided | 2023-09-06 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign in association with PKDH1-related disorders to our knowledge; This variant is associated with the following publications: (PMID: 25363768, 31785789, 34011629) |
Prevention |
RCV003945030 | SCV004758403 | uncertain significance | PKHD1-related disorder | 2024-02-21 | no assertion criteria provided | clinical testing | The PKHD1 c.5731C>T variant is predicted to result in the amino acid substitution p.Arg1911Cys. To our knowledge, this variant has not been reported in patients with autosomal recessive polycystic kidney disease (ARPKD) in the literature. However, this variant has been reported to occur de novo in individuals with autism spectrum disorder (Iossifov et al. 2014. PubMed ID: 25363768, Suppl. Table 2; Koire et al. 2021. PubMed ID: 34011629, Table S1; Turner et al. 2019. PubMed ID: 31785789, Table S2). This variant is reported in 0.039% of alleles in individuals of Ashkenazi Jewish descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |