ClinVar Miner

Submissions for variant NM_005677.4(COLQ):c.922G>A (p.Val308Met)

gnomAD frequency: 0.00093  dbSNP: rs184245561
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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 RCV001519761 SCV001728688 benign Congenital myasthenic syndrome 5 2024-08-02 criteria provided, single submitter clinical testing

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