Submissions for variant NM_000018.4(ACADVL):c.753-27C>T

dbSNP: rs374911841

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000550616	SCV000654966	benign	Very long chain acyl-CoA dehydrogenase deficiency	2023-09-21	criteria provided, single submitter	clinical testing
GeneDx	RCV000603826	SCV000729665	likely benign	not specified	2018-01-03	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.
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	RCV000550616	SCV001365158	uncertain significance	Very long chain acyl-CoA dehydrogenase deficiency	2019-11-01	criteria provided, single submitter	clinical testing	The NM_000018.3:c.753-27C>T (NP_000009.1:p.?) [GRCH38: NC_000017.11:g.7222150C>T] variant in ACADVL gene is interpretated to be Uncertain Significance based on ACMG guidelines (PMID: 25741868). This variant has been reported. This variant dose not meet any evidence codes reported in the ACMG guidelines.
CeGaT Center for Human Genetics Tuebingen	RCV003311848	SCV004010551	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	ACADVL: BS1:Supporting
PreventionGenetics, part of Exact Sciences	RCV003935524	SCV004750177	likely benign	ACADVL-related condition	2020-09-23	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc.	RCV000550616	SCV001453214	uncertain significance	Very long chain acyl-CoA dehydrogenase deficiency	2020-05-05	no assertion criteria provided	clinical testing