ClinVar Miner

Submissions for variant NM_001065.4(TNFRSF1A):c.194-15C>T

gnomAD frequency: 0.00003  dbSNP: rs104895259
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000083908 SCV003516255 likely benign TNF receptor-associated periodic fever syndrome (TRAPS) 2022-11-10 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083908 SCV000116018 not provided TNF receptor-associated periodic fever syndrome (TRAPS) no assertion provided not provided

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