ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.6552C>T (p.Ala2184=)

gnomAD frequency: 0.00001  dbSNP: rs763086961
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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 RCV000601433 SCV000713450 likely benign not specified 2017-07-25 criteria provided, single submitter clinical testing p.Ala2184Ala in exon 30 of GPR98: This variant is not expected to have clinical significance because it does not alter an amino acid residue, and it is not loca ted within the splice consensus sequence. It has been identified in 3/244960 of the total chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad .broadinstitute.org; dbSNP rs763086961).
Invitae RCV002065201 SCV002484899 likely benign not provided 2023-08-30 criteria provided, single submitter clinical testing

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