ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.318A>G (p.Leu106=) (rs754804402)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000827079 SCV000968695 likely benign not provided 2018-05-18 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.
Invitae RCV001086802 SCV001008872 benign Charcot-Marie-Tooth Neuropathy X 2020-11-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271689 SCV001453013 uncertain significance Charcot-Marie-Tooth disease 2020-01-24 no assertion criteria provided clinical testing

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