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

Total submissions: 10

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	RCV001082848	SCV000259555	likely benign	Charcot-Marie-Tooth disease, type 2	2019-12-31	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
Molecular Genetics Laboratory,London Health Sciences Centre	RCV000192241	SCV001335736	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
Institute of Human Genetics, University of Leipzig Medical Center	RCV001262290	SCV001440104	likely benign	Basel-Vanagaite-Smirin-Yosef syndrome	2019-01-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories	RCV001262290	SCV001477651	likely benign	Basel-Vanagaite-Smirin-Yosef syndrome	2020-07-30	criteria provided, single submitter	clinical testing
OMIM	RCV000001387	SCV000021537	uncertain significance	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