ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.5780C>T (p.Thr1927Met) (rs17544552)

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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, Partners HealthCare Personalized Medicine RCV000039595 SCV000063284 benign not specified 2010-03-30 criteria provided, single submitter clinical testing
GeneDx RCV000039595 SCV000168703 benign not specified 2013-01-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
NEI Ophthalmic Genomics Laboratory,National Institutes of Health RCV000086997 SCV000119250 not provided not provided no assertion provided not provided
Genetic Services Laboratory, University of Chicago RCV000039595 SCV000193273 likely benign not specified no assertion criteria provided clinical testing

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