Submissions for variant NM_000243.3(MEFV):c.2271C>T (p.Ser757=)

dbSNP: rs772754956

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000589667	SCV000696063	likely benign	not specified	2019-08-29	criteria provided, single submitter	clinical testing
Invitae	RCV000939022	SCV001084855	likely benign	Familial Mediterranean fever	2023-11-22	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001811088	SCV002048824	likely benign	not provided	2021-02-17	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002483565	SCV002796527	likely benign	Familial Mediterranean fever; Familial Mediterranean fever, autosomal dominant; Acute febrile neutrophilic dermatosis	2022-04-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000939022	SCV003802323	uncertain significance	Familial Mediterranean fever	2023-02-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003126834	SCV003802334	likely benign	Familial Mediterranean fever, autosomal dominant	2023-02-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003126835	SCV003802345	likely benign	Acute febrile neutrophilic dermatosis	2023-02-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004530641	SCV004710409	likely benign	MEFV-related disorder	2022-01-03	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).