ClinVar Miner

Submissions for variant NM_001244710.2(GFPT1):c.739+19A>G

dbSNP: rs1335194019
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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 RCV002204756 SCV002352782 likely benign Congenital myasthenic syndrome 12 2023-08-17 criteria provided, single submitter clinical testing

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