ClinVar Miner

Submissions for variant NM_001244710.2(GFPT1):c.1851T>C (p.Tyr617=)

gnomAD frequency: 0.00001  dbSNP: rs377155851
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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 RCV002542256 SCV001077721 likely benign Congenital myasthenic syndrome 12 2023-06-20 criteria provided, single submitter clinical testing

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