ClinVar Miner

Submissions for variant NM_005677.4(COLQ):c.718-1276C>T

dbSNP: rs2062220124
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV001255617 SCV001432148 likely pathogenic Congenital myasthenic syndrome 5 2020-04-02 criteria provided, single submitter clinical testing
Baylor Genetics RCV001255617 SCV004214441 likely pathogenic Congenital myasthenic syndrome 5 2023-12-23 criteria provided, single submitter clinical testing

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