ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.8265C>T (p.Ser2755=)

gnomAD frequency: 0.00008  dbSNP: rs371820414
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Total submissions: 2
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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 RCV000155108 SCV000204794 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Ser2755Ser in Exon 35 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 1/6554 European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS).
Invitae RCV001428526 SCV001631226 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing

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