ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.6925G>A (p.Ala2309Thr)

gnomAD frequency: 0.00009  dbSNP: rs201528839
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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 RCV001195186 SCV001365484 likely benign not specified 2019-10-08 criteria provided, single submitter clinical testing The p.Ala2309Thr variant in ADGRV1 is classified as likely benign because it has been identified in 0.3% (36/10350) of Ashkenazi Jewish chromosomes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BS1.
Invitae RCV001442411 SCV001645360 likely benign not provided 2024-01-28 criteria provided, single submitter clinical testing

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