ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.14889G>A (p.Thr4963=)

gnomAD frequency: 0.00004  dbSNP: rs370103595
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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 RCV000607100 SCV000711057 likely benign not specified 2016-06-09 criteria provided, single submitter clinical testing p.Thr4963Thr in Exon 73 of GPR98: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 4/65446 of Europea n chromosomes, 1/9530 of African chromosomes, and 1/8198 of East Asian chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs370103595).
Invitae RCV001411938 SCV001614010 likely benign not provided 2024-01-26 criteria provided, single submitter clinical testing

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