Submissions for variant NM_000018.4(ACADVL):c.1678+23C>T

gnomAD frequency: 0.00163  dbSNP: rs147546456

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000652047	SCV000773913	benign	Very long chain acyl-CoA dehydrogenase deficiency	2021-12-18	criteria provided, single submitter	clinical testing
Counsyl	RCV000652047	SCV000799649	uncertain significance	Very long chain acyl-CoA dehydrogenase deficiency	2018-04-27	criteria provided, single submitter	clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	RCV000652047	SCV001365167	uncertain significance	Very long chain acyl-CoA dehydrogenase deficiency	2019-11-01	criteria provided, single submitter	clinical testing	The NM_000018.3:c.1678+23C>T (NP_000009.1:p.?) [GRCH38: NC_000017.11:g.7224575C>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.
Baylor Genetics	RCV000652047	SCV001526917	uncertain significance	Very long chain acyl-CoA dehydrogenase deficiency	2018-04-05	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx	RCV001559679	SCV001781962	likely benign	not provided	2019-08-27	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27246109)
Natera, Inc.	RCV000652047	SCV001455190	uncertain significance	Very long chain acyl-CoA dehydrogenase deficiency	2020-01-09	no assertion criteria provided	clinical testing