ClinVar Miner

Submissions for variant NM_001244710.2(GFPT1):c.1335A>G (p.Ala445=)

dbSNP: rs2104616321
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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 RCV002105333 SCV002399088 likely benign Congenital myasthenic syndrome 12 2024-10-10 criteria provided, single submitter clinical testing

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