ClinVar Miner

Submissions for variant NM_001065.4(TNFRSF1A):c.224C>T (p.Pro75Leu) (rs4149637)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235568 SCV000292693 likely benign not specified 2017-10-02 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 RCV000534430 SCV000380682 likely benign TNF receptor-associated periodic fever syndrome (TRAPS) 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283458 SCV000605405 benign none provided 2020-06-15 criteria provided, single submitter clinical testing
Invitae RCV000534430 SCV000637235 likely benign TNF receptor-associated periodic fever syndrome (TRAPS) 2020-12-02 criteria provided, single submitter clinical testing
Mendelics RCV000534430 SCV001138635 benign TNF receptor-associated periodic fever syndrome (TRAPS) 2019-05-28 criteria provided, single submitter clinical testing

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