ClinVar Miner

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

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001085280 SCV000657927 benign Charcot-Marie-Tooth disease type 4 2019-12-31 criteria provided, single submitter clinical testing
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.
Athena Diagnostics Inc RCV000527958 SCV001145613 likely benign not provided 2019-03-11 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173207 SCV001336288 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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