ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.14532G>T (p.Leu4844=)

gnomAD frequency: 0.00005  dbSNP: rs367716487
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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 RCV000155115 SCV000204801 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Leu4844Leu in Exon 71 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 2/6626 European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS).
GeneDx RCV001558854 SCV001780883 likely benign not provided 2020-11-03 criteria provided, single submitter clinical testing
Invitae RCV001558854 SCV002471171 likely benign not provided 2024-01-04 criteria provided, single submitter clinical testing

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