Submissions for variant NM_000243.3(MEFV):c.751G>A (p.Glu251Lys)

dbSNP: rs104895111

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Mendelics	RCV000083795	SCV001139876	uncertain significance	Familial Mediterranean fever	2019-05-28	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262653	SCV002542303	uncertain significance	Autoinflammatory syndrome	2021-12-13	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000083795	SCV003802283	likely benign	Familial Mediterranean fever	2023-02-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003126483	SCV003802284	benign	Familial Mediterranean fever, autosomal dominant	2023-02-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003126484	SCV003802285	benign	Acute febrile neutrophilic dermatosis	2023-02-08	criteria provided, single submitter	clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier	RCV000083795	SCV000115893	not provided	Familial Mediterranean fever		no assertion provided	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701743	SCV001929896	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001701743	SCV001966710	uncertain significance	not provided		no assertion criteria provided	clinical testing