ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.13495C>T (p.Arg4499Cys)

gnomAD frequency: 0.00001  dbSNP: rs567519802
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001241208 SCV001414212 likely benign not provided 2023-12-05 criteria provided, single submitter clinical testing
GeneDx RCV001241208 SCV001767231 uncertain significance not provided 2020-01-02 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 29266188)

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