ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.1106G>A (p.Arg369His) (rs551803988)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000807089 SCV000947124 likely benign Charcot-Marie-Tooth disease type 4 2020-01-04 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001289212 SCV001476877 uncertain significance not provided 2020-03-23 criteria provided, single submitter clinical testing

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