ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.4149C>T (p.Tyr1383=)

gnomAD frequency: 0.00001  dbSNP: rs138929990
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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, Mass General Brigham Personalized Medicine RCV000155105 SCV000204791 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Tyr1383Tyr 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 1/6636 European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS; dbSNP rs138929990).
Invitae RCV000931870 SCV001077546 likely benign not provided 2024-01-02 criteria provided, single submitter clinical testing
GeneDx RCV000931870 SCV002012950 likely benign not provided 2021-05-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000931870 SCV004159108 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing ADGRV1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003945232 SCV004769936 likely benign ADGRV1-related condition 2019-08-01 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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