ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.8172C>T (p.Phe2724=)

gnomAD frequency: 0.00092  dbSNP: rs371019516
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595746 SCV000704992 likely benign not specified 2017-01-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000595746 SCV000711047 benign not specified 2016-08-24 criteria provided, single submitter clinical testing p.Phe2724Phe in exon 35 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 0.4% (31/7020) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad institute.org; dbSNP rs371019516).
Invitae RCV001521730 SCV001731124 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001521730 SCV001804435 likely benign not provided 2019-04-17 criteria provided, single submitter clinical testing

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