ClinVar Miner

Submissions for variant NM_001065.4(TNFRSF1A):c.558G>A (p.Lys186=)

gnomAD frequency: 0.00002  dbSNP: rs104895275
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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 RCV000761621 SCV000891791 likely benign not provided 2018-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000083961 SCV003780308 likely benign TNF receptor-associated periodic fever syndrome (TRAPS) 2022-11-22 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083961 SCV000116077 not provided TNF receptor-associated periodic fever syndrome (TRAPS) no assertion provided not provided

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