ClinVar Miner

Submissions for variant NM_001244710.2(GFPT1):c.1267C>T (p.Leu423=)

dbSNP: rs1168233879
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000909969 SCV001054809 likely benign Congenital myasthenic syndrome 12 2023-12-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003968384 SCV004791942 likely benign GFPT1-related disorder 2024-02-09 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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