Submissions for variant NM_000243.3(MEFV):c.*245G>A

gnomAD frequency: 0.58215  dbSNP: rs2741919

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Atomic Energy Commission of Syria (AECS)	RCV000209870	SCV000265501	likely benign	Familial Mediterranean fever	2016-01-25	criteria provided, single submitter	case-control
Illumina Laboratory Services, Illumina	RCV000209870	SCV000396754	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	RCV001689737	SCV001912751	benign	not provided	2018-06-26	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000209870	SCV003802090	benign	Familial Mediterranean fever	2023-02-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003126598	SCV003802101	benign	Familial Mediterranean fever, autosomal dominant	2023-02-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003126599	SCV003802112	benign	Acute febrile neutrophilic dermatosis	2023-02-08	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001689737	SCV005215116	likely benign	not provided		criteria provided, single submitter	not provided