ClinVar Miner

Submissions for variant NM_001065.4(TNFRSF1A):c.193+6G>A

gnomAD frequency: 0.00037  dbSNP: rs147111217
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000876486 SCV001019064 likely benign TNF receptor-associated periodic fever syndrome (TRAPS) 2023-07-16 criteria provided, single submitter clinical testing
GeneDx RCV001683683 SCV001897480 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001683683 SCV005329743 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing TNFRSF1A: BP4

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