ClinVar Miner

Submissions for variant NM_001065.4(TNFRSF1A):c.250T>C (p.Cys84Arg)

dbSNP: rs104895253
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623133 SCV000741960 likely pathogenic Inborn genetic diseases 2016-11-23 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083925 SCV000116037 not provided TNF receptor-associated periodic fever syndrome (TRAPS) no assertion provided not provided

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