ClinVar Miner

Submissions for variant NM_001065.4(TNFRSF1A):c.384G>A (p.Arg128=)

gnomAD frequency: 0.00001  dbSNP: rs747164054
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001506795 SCV001711730 likely benign TNF receptor-associated periodic fever syndrome (TRAPS) 2022-07-05 criteria provided, single submitter clinical testing
GeneDx RCV001685370 SCV001900925 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264362 SCV002543102 uncertain significance Autoinflammatory syndrome 2021-12-23 criteria provided, single submitter clinical testing

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