ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.807C>T (p.Thr269=) (rs750620543)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000866047 SCV001007090 likely benign not provided 2018-11-21 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174165 SCV001337286 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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