ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.2140G>A (p.Gly714Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001222997 SCV001395125 likely benign Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2020-05-21 criteria provided, single submitter clinical testing
GeneDx RCV001586067 SCV001820306 uncertain significance not provided 2019-12-11 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

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