ClinVar Miner

Submissions for variant NM_001244710.2(GFPT1):c.459C>T (p.Ala153=)

gnomAD frequency: 0.00009  dbSNP: rs775046657
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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 RCV002142977 SCV002450543 likely benign Congenital myasthenic syndrome 12 2024-11-22 criteria provided, single submitter clinical testing

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