Submissions for variant NM_000243.3(MEFV):c.2109C>T (p.Ser703=)

gnomAD frequency: 0.00004  dbSNP: rs104895118

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000083745	SCV001064712	likely benign	Familial Mediterranean fever	2024-01-16	criteria provided, single submitter	clinical testing
GeneDx	RCV001539987	SCV001757817	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002498440	SCV002810167	likely benign	Familial Mediterranean fever; Familial Mediterranean fever, autosomal dominant; Acute febrile neutrophilic dermatosis	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000083745	SCV003801627	uncertain significance	Familial Mediterranean fever	2023-02-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003126445	SCV003801638	likely benign	Familial Mediterranean fever, autosomal dominant	2023-02-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003126446	SCV003801649	likely benign	Acute febrile neutrophilic dermatosis	2023-02-08	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001539987	SCV005215120	likely benign	not provided		criteria provided, single submitter	not provided
Unité médicale des maladies autoinflammatoires, CHRU Montpellier	RCV000083745	SCV000115839	not provided	Familial Mediterranean fever		no assertion provided	not provided
Natera, Inc.	RCV000083745	SCV002093886	likely benign	Familial Mediterranean fever	2020-03-17	no assertion criteria provided	clinical testing