ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.463A>G (p.Ile155Val)

gnomAD frequency: 0.00221  dbSNP: rs199873924
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039586 SCV000063275 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Ile155Val in Exon 05 of GPR98: This variant is not expected to have clinical sig nificance because it has been identified in 0.7% (23/3260) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS).
Eurofins Ntd Llc (ga) RCV000039586 SCV000341006 likely benign not specified 2016-05-26 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001154050 SCV001315370 benign Usher syndrome type 2C 2025-04-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001516861 SCV001725220 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001516861 SCV001845038 benign not provided 2019-01-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004549467 SCV004726951 likely benign ADGRV1-related disorder 2019-08-29 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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