ClinVar Miner

Submissions for variant NM_052945.3(TNFRSF13C):c.317G>A (p.Arg106Gln) (rs150374940)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000260774 SCV000438941 uncertain significance Common Variable Immune Deficiency, Recessive 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506848 SCV000605402 likely benign not specified 2016-04-06 criteria provided, single submitter clinical testing
Invitae RCV000859930 SCV000650063 likely benign not provided 2019-03-05 criteria provided, single submitter clinical testing
GeneDx RCV000506848 SCV000730179 likely benign not specified 2018-01-17 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000539736 SCV000743137 likely benign Common variable immunodeficiency 4 2017-07-28 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000539736 SCV000744156 likely benign Common variable immunodeficiency 4 2017-06-21 criteria provided, single submitter clinical testing

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