ClinVar Miner

Submissions for variant NM_001244710.2(GFPT1):c.1845C>T (p.His615=)

gnomAD frequency: 0.00001  dbSNP: rs756332941
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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 RCV001401936 SCV001603774 likely benign Congenital myasthenic syndrome 12 2024-10-30 criteria provided, single submitter clinical testing

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