ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.1299G>A (p.Ser433=) (rs140904010)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000433254 SCV000535663 likely benign not specified 2017-01-03 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 RCV001089041 SCV000657893 benign Charcot-Marie-Tooth disease type 4 2020-10-07 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713261 SCV000843849 benign not provided 2017-11-15 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173212 SCV001336293 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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