ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.14654A>G (p.Asn4885Ser) (rs61731030)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039529 SCV000063218 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Asn4885Ser in Exon 71 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 2.6% (77/3012) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs61731030).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039529 SCV000232397 benign not specified 2015-12-08 criteria provided, single submitter clinical testing
Invitae RCV000892572 SCV001036454 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001152056 SCV001313260 benign Usher syndrome, type 2C 2017-10-12 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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