ClinVar Miner

Submissions for variant NM_001244710.2(GFPT1):c.1722A>C (p.Ala574=)

dbSNP: rs2104599962
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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 RCV002075355 SCV002373308 likely benign Congenital myasthenic syndrome 12 2022-04-08 criteria provided, single submitter clinical testing

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