ClinVar Miner

Submissions for variant NM_024009.3(GJB3):c.499G>A (p.Val167Met) (rs376748531)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000407015 SCV000343287 uncertain significance not provided 2016-10-04 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763901 SCV000894838 uncertain significance Deafness, autosomal recessive 1A; Deafness, autosomal dominant 2b; Erythrokeratodermia variabilis et progressiva 1 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000407015 SCV001073020 likely benign not provided 2018-08-20 criteria provided, single submitter clinical testing

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