ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.1017C>T (p.Ala339=) (rs201779392)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725079 SCV000333835 uncertain significance not provided 2015-08-24 criteria provided, single submitter clinical testing
GeneDx RCV000397692 SCV000522638 likely benign not specified 2015-12-29 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 RCV001088169 SCV001007229 likely benign Charcot-Marie-Tooth disease type 4 2019-12-31 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173893 SCV001337009 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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