ClinVar Miner

Submissions for variant NM_001065.4(TNFRSF1A):c.12C>T (p.Ser4=)

gnomAD frequency: 0.00001  dbSNP: rs199780452
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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 RCV002170369 SCV002333632 likely benign TNF receptor-associated periodic fever syndrome (TRAPS) 2023-10-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264453 SCV002543085 uncertain significance Autoinflammatory syndrome 2022-01-25 criteria provided, single submitter clinical testing

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