Submissions for variant NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) (rs1799958)

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000077896	SCV000109725	benign	not specified	2013-04-16	criteria provided, single submitter	clinical testing
GeneDx	RCV000185685	SCV000238606	benign	not provided	2018-01-04	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.
GeneReviews	RCV000004035	SCV000188414	likely pathogenic	Deficiency of butyryl-CoA dehydrogenase	2014-08-07	no assertion criteria provided	literature only
GenomeConnect, ClinGen	RCV000004035	SCV000606903	not provided	Deficiency of butyryl-CoA dehydrogenase		no assertion provided	phenotyping only	GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Genomic Research Center,Shahid Beheshti University of Medical Sciences	RCV000077896	SCV000746501	benign	not specified	2019-01-01	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000004035	SCV000376683	benign	Deficiency of butyryl-CoA dehydrogenase	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000004035	SCV000756747	benign	Deficiency of butyryl-CoA dehydrogenase	2019-01-06	criteria provided, single submitter	clinical testing
OMIM	RCV000004035	SCV000024201	pathogenic	Deficiency of butyryl-CoA dehydrogenase	2001-01-01	no assertion criteria provided	literature only