ClinVar Miner

Submissions for variant NM_001065.4(TNFRSF1A):c.151C>T (p.His51Tyr)

dbSNP: rs104895227
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083899 SCV000116005 not provided TNF receptor-associated periodic fever syndrome (TRAPS) no assertion provided not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701502 SCV001932397 pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001701502 SCV001958866 pathogenic not provided no assertion criteria provided clinical testing

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