ClinVar Miner

Submissions for variant NM_001244710.2(GFPT1):c.223+19T>C

gnomAD frequency: 0.00001  dbSNP: rs532780798
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002099941 SCV002390731 likely benign Congenital myasthenic syndrome 12 2023-11-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711794 SCV005256990 likely benign not provided criteria provided, single submitter not provided

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