ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.3049G>A (p.Ala1017Thr) (rs186029710)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000654217 SCV000454530 uncertain significance Charcot-Marie-Tooth disease type 4 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327954 SCV000454531 uncertain significance Mononeuropathy of the Median Nerve 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000654217 SCV000776107 likely benign Charcot-Marie-Tooth disease type 4 2017-12-26 criteria provided, single submitter clinical testing

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