ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.3741G>A (p.Glu1247=)

gnomAD frequency: 0.00026  dbSNP: rs371571867
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Total submissions: 3
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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 RCV000155103 SCV000204789 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Glu1247Glu in Exon 20 of GPR98: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 1/6686 European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS).
Invitae RCV001511238 SCV001718448 benign not provided 2023-12-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003927501 SCV004745676 likely benign ADGRV1-related condition 2019-09-09 criteria provided, single submitter 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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