ClinVar Miner

Submissions for variant NM_005677.4(COLQ):c.107-9263G>C

gnomAD frequency: 0.00011  dbSNP: rs905126365
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001454695 SCV001658431 likely benign Congenital myasthenic syndrome 5 2018-02-26 criteria provided, single submitter clinical testing
GeneDx RCV000925976 SCV002504238 likely benign not provided 2019-08-20 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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