ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.223G>A (p.Ala75Thr) (rs2228206)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000252035 SCV000308721 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000252035 SCV000513263 benign not specified 2016-03-03 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 RCV000552218 SCV000642333 benign Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2020-12-03 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173582 SCV001336681 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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