ClinVar Miner

Submissions for variant NM_001065.4(TNFRSF1A):c.473-16G>A

gnomAD frequency: 0.00008  dbSNP: rs104895251
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000585293 SCV000692738 likely benign not provided 2020-08-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000083959 SCV002240202 likely benign TNF receptor-associated periodic fever syndrome (TRAPS) 2023-08-03 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083959 SCV000116075 not provided TNF receptor-associated periodic fever syndrome (TRAPS) no assertion provided not provided

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