ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.10577T>C (p.Met3526Thr) (rs41311343)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039505 SCV000063194 benign not specified 2012-04-10 criteria provided, single submitter clinical testing
GeneDx RCV000039505 SCV000168719 benign not specified 2013-05-14 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039505 SCV000231291 benign not specified 2014-11-07 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000086991 SCV000612274 benign not provided 2018-01-26 criteria provided, single submitter clinical testing
NEI Ophthalmic Genomics Laboratory,National Institutes of Health RCV000086991 SCV000119244 not provided not provided no assertion provided not provided
Genetic Services Laboratory, University of Chicago RCV000039505 SCV000193222 likely benign not specified no assertion criteria provided clinical testing

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