Submissions for variant NM_000126.4(ETFA):c.186+7A>G

gnomAD frequency: 0.00231  dbSNP: rs184587113

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000185862	SCV000238813	benign	not specified	2014-07-10	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.
Illumina Laboratory Services, Illumina	RCV000323787	SCV000393973	uncertain significance	Multiple acyl-CoA dehydrogenase deficiency	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae	RCV000323787	SCV000631944	likely benign	Multiple acyl-CoA dehydrogenase deficiency	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000676980	SCV002497803	likely benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	ETFA: BP4
Mayo Clinic Laboratories, Mayo Clinic	RCV000676980	SCV000802807	likely benign	not provided	2016-02-26	no assertion criteria provided	clinical testing
Natera, Inc.	RCV001833109	SCV002089811	benign	Glutaric acidemia type 2A	2019-10-21	no assertion criteria provided	clinical testing