Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000724279 | SCV000225665 | uncertain significance | not provided | 2014-12-19 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000174376 | SCV000603296 | uncertain significance | not specified | 2019-03-18 | criteria provided, single submitter | clinical testing | The WHRN c.2644C>A; p.Arg882Ser variant (rs150586098; ClinVar Variation ID: 194094) is found in the general population with an overall allele frequency of 0.04% (112/281,334 alleles) in the Genome Aggregation Database. The arginine at position 882 is moderately conserved (Alamut software v2.11) and computational analyses (SIFT, PolyPhen-2) of the effects of the p.Arg882Ser variant on protein structure and function predict a deleterious effect. |
Labcorp Genetics |
RCV000724279 | SCV001060543 | likely benign | not provided | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001165659 | SCV001327876 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 31 | 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. |
Illumina Laboratory Services, |
RCV001165660 | SCV001327877 | uncertain significance | Usher syndrome type 2D | 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Gene |
RCV000724279 | SCV001757710 | uncertain significance | not provided | 2024-01-25 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in cis with S648Y in unrelated individuals in the published literature and at GeneDx (PMID: 20352026, 22277662); This variant is associated with the following publications: (PMID: 30245029, 22277662, 26969326, 37811145, 20352026) |
Laboratory of Prof. |
RCV001165659 | SCV005199918 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 31 | 2024-08-20 | criteria provided, single submitter | research | The p.(Arg882Ser) known recessive variant (PMID: 20352026) was detected in an hearing impaired individual with severe-to-profound HL, in compound heterozygosity with another known variant, p.(Ser648Tyr), |
Clinical Genetics, |
RCV000724279 | SCV001922051 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000724279 | SCV001964418 | uncertain significance | not provided | no assertion criteria provided | clinical testing |