ClinVar Miner

Submissions for variant NM_021629.4(GNB4):c.186T>C (p.His62=) (rs149798652)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475460 SCV000558975 benign Charcot-Marie-Tooth disease, dominant intermediate F 2020-11-25 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001531584 SCV001746785 likely benign not provided 2021-04-01 criteria provided, single submitter clinical testing
GeneDx RCV001531584 SCV001821112 likely benign not provided 2020-08-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28975462)

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