ClinVar Miner

Submissions for variant NM_001065.4(TNFRSF1A):c.789T>C (p.Thr263=)

gnomAD frequency: 0.00069  dbSNP: rs201290189
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001517130 SCV001725564 benign TNF receptor-associated periodic fever syndrome (TRAPS) 2024-01-04 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264369 SCV002543115 likely benign Autoinflammatory syndrome 2020-04-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003931099 SCV004743272 likely benign TNFRSF1A-related disorder 2019-05-08 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals RCV001517130 SCV002029176 likely benign TNF receptor-associated periodic fever syndrome (TRAPS) 2021-11-18 no assertion criteria provided clinical testing

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