ClinVar Miner

Submissions for variant NM_005677.4(COLQ):c.810T>G (p.Pro270=)

gnomAD frequency: 0.00001  dbSNP: rs1379560902
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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 RCV001504242 SCV001709116 likely benign Congenital myasthenic syndrome 5 2022-02-03 criteria provided, single submitter clinical testing

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