ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.855G>A (p.Ala285=) (rs147409148)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724748 SCV000231646 uncertain significance not provided 2015-04-16 criteria provided, single submitter clinical testing
GeneDx RCV000179401 SCV000717403 likely benign not specified 2017-10-19 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 RCV001088646 SCV001018378 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 RCV001174201 SCV001337327 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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