ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.2619G>A (p.Pro873=) (rs373001247)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423529 SCV000532350 likely benign not specified 2016-10-19 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 RCV000761791 SCV000891986 uncertain significance not provided 2018-05-01 criteria provided, single submitter clinical testing
Invitae RCV000761791 SCV001097680 likely benign not provided 2018-11-27 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001172583 SCV001335646 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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