ClinVar Miner

Submissions for variant NM_012452.2(TNFRSF13B):c.215G>A (p.Arg72His) (rs55916807)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000762233 SCV000892515 likely benign not provided 2018-09-30 criteria provided, single submitter clinical testing
GeneDx RCV000441515 SCV000521294 likely benign not specified 2016-03-02 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.
Illumina Clinical Services Laboratory,Illumina RCV000266832 SCV000400919 likely benign Common Variable Immune Deficiency, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000648147 SCV000769961 likely benign Common variable immunodeficiency 2 2017-12-12 criteria provided, single submitter clinical testing

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