ClinVar Miner

Submissions for variant NM_006070.6(TFG):c.581-6A>C

gnomAD frequency: 0.00007  dbSNP: rs369615915
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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 RCV002540016 SCV001019689 likely benign Hereditary motor and sensory neuropathy, Okinawa type; Hereditary spastic paraplegia 57 2024-11-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004549988 SCV004789452 likely benign TFG-related disorder 2019-03-06 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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