ClinVar Miner

Submissions for variant NM_024577.4(SH3TC2):c.3291del (p.Thr1098fs)

dbSNP: rs1580889913
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001027708 SCV001190289 likely pathogenic Charcot-Marie-Tooth disease type 4C 2019-08-09 criteria provided, single submitter clinical testing

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