Submissions for variant NM_001065.4(TNFRSF1A):c.1075C>T (p.Leu359=)

gnomAD frequency: 0.00050  dbSNP: rs151344628

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000125556	SCV000169008	benign	not specified	2012-04-24	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000083673	SCV001006461	benign	TNF receptor-associated periodic fever syndrome (TRAPS)	2024-01-19	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262628	SCV002543078	likely benign	Autoinflammatory syndrome	2019-04-01	criteria provided, single submitter	clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier	RCV000083673	SCV000115759	not provided	TNF receptor-associated periodic fever syndrome (TRAPS)		no assertion provided	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001705806	SCV001930652	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001705806	SCV001970508	likely benign	not provided		no assertion criteria provided	clinical testing