ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.807C>T (p.Thr269=)

gnomAD frequency: 0.00001  dbSNP: rs750620543
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001174165 SCV001337286 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV001466590 SCV001670594 likely benign Charcot-Marie-Tooth Neuropathy X 2024-01-19 criteria provided, single submitter clinical testing

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