ClinVar Miner

Submissions for variant NM_024577.4(SH3TC2):c.233_239del (p.Leu78fs)

dbSNP: rs2127402263
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences RCV001449914 SCV001623052 pathogenic Charcot-Marie-Tooth disease type 4C no assertion criteria provided clinical testing

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