ClinVar Miner

Submissions for variant NM_001244710.2(GFPT1):c.1106-9T>C

gnomAD frequency: 0.00001  dbSNP: rs1214878487
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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 RCV003093499 SCV003471960 likely benign Congenital myasthenic syndrome 12 2024-12-19 criteria provided, single submitter clinical testing

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