ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.13287T>C (p.Tyr4429=)

gnomAD frequency: 0.00003  dbSNP: rs372799791
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000927601 SCV001073187 benign not provided 2024-01-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001449785 SCV001653063 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Tyr4429Tyr in Exon 66 of GPR98: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 2/6810 European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS).
GeneDx RCV000927601 SCV001816674 likely benign not provided 2020-07-28 criteria provided, single submitter clinical testing

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