ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.1143C>T (p.Leu381=) (rs145314949)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000545655 SCV000642298 likely benign Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2020-11-27 criteria provided, single submitter clinical testing
GeneDx RCV000600634 SCV000715154 likely benign not specified 2017-01-18 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001532174 SCV001747610 likely benign not provided 2021-04-01 criteria provided, single submitter clinical testing

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