Submissions for variant NM_000018.4(ACADVL):c.1575C>A (p.Val525=)

gnomAD frequency: 0.00001  dbSNP: rs745996278

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000966526	SCV001113860	likely benign	Very long chain acyl-CoA dehydrogenase deficiency	2024-01-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000966526	SCV001781302	uncertain significance	Very long chain acyl-CoA dehydrogenase deficiency	2021-07-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002391010	SCV002703590	likely benign	Inborn genetic diseases	2019-09-08	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.
CeGaT Center for Human Genetics Tuebingen	RCV003311926	SCV004010552	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	ACADVL: BP4, BP7
Natera, Inc.	RCV000966526	SCV002088803	likely benign	Very long chain acyl-CoA dehydrogenase deficiency	2020-10-16	no assertion criteria provided	clinical testing