ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.11115A>T (p.Ser3705=)

dbSNP: rs138029547
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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 RCV000600409 SCV000711053 benign not specified 2016-08-24 criteria provided, single submitter clinical testing Ser3705Ser in Exon 53 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% (45/9796) of Af rican chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadin stitute.org; dbSNP rs138029547).
GeneDx RCV000826330 SCV000967916 likely benign not provided 2019-11-27 criteria provided, single submitter clinical testing
Invitae RCV000826330 SCV001100314 benign not provided 2021-12-12 criteria provided, single submitter clinical testing

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