ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.5282C>G (p.Ser1761Cys) (rs200392821)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150758 SCV000198224 likely benign not specified 2013-10-05 criteria provided, single submitter clinical testing Ser1761Cys in exon 24 of GPR98: This variant is not expected to have clinical s ignificance because it has been identified in 0.2% (9/3956) African American chr omosomes by the NHLBI Exome Sequencing Project ( /; dbSNP rs200392821).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724365 SCV000228168 uncertain significance not provided 2014-12-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001155222 SCV001316639 uncertain significance Usher syndrome, type 2C 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV000724365 SCV001609509 likely benign not provided 2020-12-03 criteria provided, single submitter clinical testing
GeneDx RCV000724365 SCV001830629 likely benign not provided 2021-08-11 criteria provided, single submitter clinical testing

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