ClinVar Miner

Submissions for variant NM_005677.4(COLQ):c.1277C>T (p.Thr426Ile)

dbSNP: rs536042715
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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 RCV001280923 SCV001450645 pathogenic Congenital myasthenic syndrome 5 2019-12-10 no assertion criteria provided clinical testing

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