ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.3479-8A>G (rs147800229)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000610689 SCV000721168 likely benign not specified 2017-07-18 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 RCV000527958 SCV000657927 benign Charcot-Marie-Tooth disease type 4 2017-10-25 criteria provided, single submitter clinical testing

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