Submissions for variant NM_004541.4(NDUFA1):c.141G>C (p.Leu47=)

gnomAD frequency: 0.00234  dbSNP: rs140064980

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000127098	SCV000170652	benign	not specified	2014-03-19	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.
Eurofins Ntd Llc (ga)	RCV000127098	SCV000338386	benign	not specified	2016-01-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312907	SCV000848020	likely benign	Inborn genetic diseases	2016-10-27	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Invitae	RCV000906946	SCV001051617	benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000906946	SCV001501144	likely benign	not provided	2020-10-01	criteria provided, single submitter	clinical testing