ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.1064C>T (p.Ala355Val) (rs142062146)

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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 RCV000727033 SCV000705058 uncertain significance not provided 2017-01-26 criteria provided, single submitter clinical testing
GeneDx RCV000596269 SCV000728569 likely benign not specified 2017-12-29 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 RCV000532250 SCV000642294 likely benign Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2017-12-29 criteria provided, single submitter clinical testing

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