ClinVar Miner

Submissions for variant NM_001244710.2(GFPT1):c.1894-9C>T

gnomAD frequency: 0.00006  dbSNP: rs765467067
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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 RCV002085843 SCV002385234 likely benign Congenital myasthenic syndrome 12 2025-01-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003893242 SCV004716422 likely benign GFPT1-related disorder 2021-08-19 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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