Submissions for variant NM_000243.3(MEFV):c.1261-11T>G

gnomAD frequency: 0.00875  dbSNP: rs77086855

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000083689	SCV000396771	uncertain significance	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx	RCV001537822	SCV000513591	benign	not provided	2021-02-24	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28597968)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000428464	SCV001158606	benign	not specified	2019-04-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000083689	SCV001729953	benign	Familial Mediterranean fever	2024-01-31	criteria provided, single submitter	clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier	RCV000083689	SCV000115777	not provided	Familial Mediterranean fever		no assertion provided	not provided