Submissions for variant NM_000018.4(ACADVL):c.1828-4C>G

gnomAD frequency: 0.00192  dbSNP: rs184559206

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000251264	SCV000301519	likely benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000549028	SCV000654943	benign	Very long chain acyl-CoA dehydrogenase deficiency	2024-01-31	criteria provided, single submitter	clinical testing
Counsyl	RCV000549028	SCV000796774	uncertain significance	Very long chain acyl-CoA dehydrogenase deficiency	2017-12-28	criteria provided, single submitter	clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	RCV000549028	SCV001365170	uncertain significance	Very long chain acyl-CoA dehydrogenase deficiency	2019-11-01	criteria provided, single submitter	clinical testing	The NM_000018.3:c.1828-4C>G (NP_000009.1:p.?) [GRCH38: NC_000017.11:g.7224953C>G] variant in ACADVL gene is interpretated to be Uncertain Significance based on ACMG guidelines (PMID: 25741868). This variant has been reported. This variant meets the following evidence codes reported in the ACMG guidelines: BP4
GeneDx	RCV001706283	SCV001861717	benign	not provided	2015-03-06	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000549028	SCV002048857	benign	Very long chain acyl-CoA dehydrogenase deficiency	2022-03-28	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000549028	SCV002088819	likely benign	Very long chain acyl-CoA dehydrogenase deficiency	2019-10-23	no assertion criteria provided	clinical testing