Submissions for variant NM_001243279.3(ACSF3):c.342G>C (p.Ala114=)

gnomAD frequency: 0.72026  dbSNP: rs6500527

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000123494	SCV000166832	benign	not specified	2013-05-29	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.
Invitae	RCV001523139	SCV001732803	benign	Combined malonic and methylmalonic acidemia	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001523139	SCV001750300	benign	Combined malonic and methylmalonic acidemia	2021-07-01	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001274012	SCV001457694	benign	Methylmalonic acidemia	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000123494	SCV001744568	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000123494	SCV001956132	benign	not specified		no assertion criteria provided	clinical testing