ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.9083A>G (p.Asn3028Ser)

gnomAD frequency: 0.00085  dbSNP: rs150549897
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724092 SCV000230600 uncertain significance not provided 2014-07-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000178509 SCV000711049 likely benign not specified 2016-08-24 criteria provided, single submitter clinical testing p.Asn3028Ser in exon 42 of GPR98: This variant is not expected to have clinical significance because it has been identified in 0.6% (18/2968) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs150549897).
Labcorp Genetics (formerly Invitae), Labcorp RCV000724092 SCV001699203 likely benign not provided 2024-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000724092 SCV001782492 likely benign not provided 2019-04-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004553008 SCV004744254 likely benign ADGRV1-related disorder 2024-01-03 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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