Submissions for variant NM_014874.4(MFN2):c.1827C>T (p.Ser609=)

gnomAD frequency: 0.00039  dbSNP: rs138724074

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000198656	SCV000251704	benign	not specified	2014-12-19	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000206860	SCV000261160	benign	Charcot-Marie-Tooth disease type 2	2024-01-06	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000269301	SCV000347999	uncertain significance	Hereditary motor and sensory neuropathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000206860	SCV000348000	uncertain significance	Charcot-Marie-Tooth disease type 2	2016-06-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000658494	SCV000780262	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	MFN2: BP4, BP7
Athena Diagnostics	RCV000658494	SCV001143628	benign	not provided	2019-03-08	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001173007	SCV001336082	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000658494	SCV001472226	likely benign	not provided	2023-10-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002408876	SCV002713153	likely benign	Inborn genetic diseases	2019-07-11	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Clinical Genetics, Academic Medical Center	RCV000658494	SCV001922625	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000658494	SCV001969243	likely benign	not provided		no assertion criteria provided	clinical testing