ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.12148G>A (p.Asp4050Asn)

gnomAD frequency: 0.00003  dbSNP: rs576743510
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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 RCV000610046 SCV000711991 likely benign not specified 2016-05-11 criteria provided, single submitter clinical testing p.Asp4050Asn in exon 50 of GPR98: This variant is not expected to have clinical significance because it has been identified in 0.4% (43/10654) of Latino chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs576743510).
Invitae RCV000905883 SCV001050484 likely benign not provided 2024-01-16 criteria provided, single submitter clinical testing
GeneDx RCV000905883 SCV001763747 likely benign not provided 2023-01-04 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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