Submissions for variant NM_001065.4(TNFRSF1A):c.168G>A (p.Ser56=)

gnomAD frequency: 0.00005  dbSNP: rs104895280

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000612868	SCV000730182	likely benign	not specified	2017-12-29	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000083902	SCV003255811	likely benign	TNF receptor-associated periodic fever syndrome (TRAPS)	2022-05-28	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001795156	SCV005213688	likely benign	not provided		criteria provided, single submitter	not provided
Unité médicale des maladies autoinflammatoires, CHRU Montpellier	RCV000083902	SCV000116008	not provided	TNF receptor-associated periodic fever syndrome (TRAPS)		no assertion provided	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001795156	SCV002034269	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001795156	SCV002038215	likely benign	not provided		no assertion criteria provided	clinical testing