ClinVar Miner

Submissions for variant NM_006070.6(TFG):c.1090A>C (p.Thr364Pro)

gnomAD frequency: 0.00476  dbSNP: rs6772054
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000558585 SCV000642057 benign Hereditary motor and sensory neuropathy, Okinawa type; Hereditary spastic paraplegia 57 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001644651 SCV001858256 benign not provided 2018-07-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001644651 SCV005300577 benign not provided criteria provided, single submitter not provided

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