ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.1582G>A (p.Ala528Thr) (rs724159960)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236327 SCV000293148 uncertain significance not provided 2019-10-21 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 25439726, 26752306, 26922252)
OMIM RCV000149578 SCV000196554 pathogenic Charcot-Marie-Tooth disease, axonal, type 2S 2014-11-06 no assertion criteria provided literature only

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