Submissions for variant NM_000243.3(MEFV):c.1587+33C>G

gnomAD frequency: 0.00556  dbSNP: rs146820856

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000727205	SCV000604175	benign	not provided	2023-10-20	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000727205	SCV000706601	uncertain significance	not provided	2017-02-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000727205	SCV000975438	likely benign	not provided	2018-06-16	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	RCV000084150	SCV001717441	benign	Familial Mediterranean fever	2023-10-26	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000727205	SCV004700194	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	MEFV: BS1
Unité médicale des maladies autoinflammatoires, CHRU Montpellier	RCV000084150	SCV000116281	not provided	Familial Mediterranean fever		no assertion provided	not provided
Natera, Inc.	RCV001274312	SCV001458299	benign	Familial Mediterranean fever, autosomal dominant	2020-06-04	no assertion criteria provided	clinical testing