ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.17871G>A (p.Ala5957=)

gnomAD frequency: 0.00028  dbSNP: rs373800116
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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 RCV000155119 SCV000204805 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Ala5957Ala in Exon 84 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 0.1% (2/3100) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS).
Invitae RCV001417046 SCV001619241 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing

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