ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.15786C>T (p.Phe5262=)

gnomAD frequency: 0.00134  dbSNP: rs369083434
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Total submissions: 4
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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 RCV000039537 SCV000063226 benign not specified 2015-06-08 criteria provided, single submitter clinical testing Phe5262Phe in Exon 74 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 0.5% (47/9728) of Af rican chromosomes, including 1 homozygote, by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs369083434).
Eurofins NTD LLC (GA) RCV000725984 SCV000341009 uncertain significance not provided 2016-05-26 criteria provided, single submitter clinical testing
Invitae RCV000725984 SCV001725221 benign not provided 2021-12-14 criteria provided, single submitter clinical testing
GeneDx RCV000725984 SCV001818813 likely benign not provided 2019-10-01 criteria provided, single submitter clinical testing

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