ClinVar Miner

Submissions for variant NM_006070.6(TFG):c.716T>C (p.Ile239Thr)

gnomAD frequency: 0.00005  dbSNP: rs146004809
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000688256 SCV000815861 likely benign Hereditary motor and sensory neuropathy, Okinawa type; Hereditary spastic paraplegia 57 2023-06-14 criteria provided, single submitter clinical testing

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