ClinVar Miner

Submissions for variant NM_001065.4(TNFRSF1A):c.214T>C (p.Cys72Arg)

dbSNP: rs104895238
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262668 SCV002542609 likely pathogenic Autoinflammatory syndrome 2021-04-16 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083916 SCV000116026 not provided TNF receptor-associated periodic fever syndrome (TRAPS) no assertion provided not provided

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