ClinVar Miner

Submissions for variant NM_001065.4(TNFRSF1A):c.184T>G (p.Cys62Gly)

dbSNP: rs104895225
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624870 SCV000741400 likely pathogenic Inborn genetic diseases 2016-03-24 criteria provided, single submitter clinical testing
OMIM RCV000013136 SCV000033383 pathogenic TNF receptor-associated periodic fever syndrome (TRAPS) 2001-08-01 no assertion criteria provided literature only
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000013136 SCV000116015 not provided TNF receptor-associated periodic fever syndrome (TRAPS) no assertion provided not provided

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