ClinVar Miner

Submissions for variant NM_005677.4(COLQ):c.1116C>T (p.His372=)

gnomAD frequency: 0.00001  dbSNP: rs759169923
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002073685 SCV002371441 likely benign Congenital myasthenic syndrome 5 2021-08-17 criteria provided, single submitter clinical testing

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