ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.689G>T (p.Arg230Leu) (rs780335726)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001172021 SCV001334950 uncertain significance not provided 2020-04-01 criteria provided, single submitter clinical testing
Invitae RCV001444333 SCV001647330 likely benign Charcot-Marie-Tooth Neuropathy X 2020-10-16 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789826 SCV000929210 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
Clinical Genetics,Academic Medical Center RCV001172021 SCV001917643 uncertain significance not provided no assertion criteria provided clinical testing

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