ClinVar Miner

Submissions for variant NM_005677.4(COLQ):c.1323C>G (p.Thr441=)

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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 RCV005083065 SCV005714871 likely benign Congenital myasthenic syndrome 5 2024-02-07 criteria provided, single submitter clinical testing

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