ClinVar Miner

Submissions for variant NM_005677.4(COLQ):c.322-16del

dbSNP: rs772475794
Minimum review status: Collection method:
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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 RCV002149474 SCV002412579 benign Congenital myasthenic syndrome 5 2023-05-27 criteria provided, single submitter clinical testing

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