ClinVar Miner

Submissions for variant NM_030973.3(MED25):c.1004C>T (p.Ala335Val) (rs145770066)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000416086 SCV000233169 uncertain significance not provided 2018-08-15 criteria provided, single submitter clinical testing
Invitae RCV000416086 SCV000259555 likely benign not provided 2019-02-22 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000416086 SCV000493228 uncertain significance not provided 2018-11-01 criteria provided, single submitter clinical testing
Mendelics RCV000416086 SCV001135137 uncertain significance not provided 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000001387 SCV000021537 pathogenic Charcot-Marie-Tooth disease type 2B2 2009-10-01 no assertion criteria provided literature only
GeneReviews RCV000001387 SCV000087015 pathologic Charcot-Marie-Tooth disease type 2B2 2012-07-05 no assertion criteria provided curation Converted during submission to Pathogenic.
GeneReviews RCV000192241 SCV000239889 pathogenic Charcot-Marie-Tooth disease 2015-04-30 no assertion criteria provided literature only

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