ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.832C>G (p.His278Asp) (rs144681826)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000179404 SCV000231649 uncertain significance not provided 2014-11-26 criteria provided, single submitter clinical testing
Invitae RCV000525446 SCV000642371 likely benign Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2020-03-24 criteria provided, single submitter clinical testing
GeneDx RCV000179404 SCV001813638 uncertain significance not provided 2019-10-24 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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