Submissions for variant NM_000243.3(MEFV):c.*133G>A

gnomAD frequency: 0.01591  dbSNP: rs2075849

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Atomic Energy Commission of Syria (AECS)	RCV000209942	SCV000265503	likely benign	Familial Mediterranean fever	2016-01-25	criteria provided, single submitter	case-control
Illumina Laboratory Services, Illumina	RCV000209942	SCV000396756	benign	Familial Mediterranean fever	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV001689739	SCV001912983	benign	not provided	2018-09-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000209942	SCV003802123	benign	Familial Mediterranean fever	2023-02-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003126602	SCV003802134	benign	Familial Mediterranean fever, autosomal dominant	2023-02-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003126603	SCV003802145	benign	Acute febrile neutrophilic dermatosis	2023-02-08	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001689739	SCV005215117	likely benign	not provided		criteria provided, single submitter	not provided