ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.2618C>T (p.Pro873Leu) (rs141903179)

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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 RCV000724757 SCV000226087 uncertain significance not provided 2015-04-16 criteria provided, single submitter clinical testing
GeneDx RCV000724757 SCV000292836 uncertain significance not provided 2019-12-05 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000702785 SCV000831654 likely benign Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2020-10-09 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173571 SCV001336668 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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