Submissions for variant NM_002180.2(IGHMBP2):c.2836C>T (p.Arg946Trp) (rs373943338)

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Total submissions: 3

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000236159	SCV000292592	likely benign	not specified	2017-09-29	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000538255	SCV000642352	likely benign	Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S	2019-12-31	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre	RCV001174202	SCV001337328	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing

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