ClinVar Miner

Submissions for variant NM_005677.4(COLQ):c.792G>T (p.Gly264=)

dbSNP: rs1302815595
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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 RCV001408425 SCV001610425 likely benign Congenital myasthenic syndrome 5 2023-10-03 criteria provided, single submitter clinical testing

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