Submissions for variant NM_001243279.3(ACSF3):c.306C>T (p.Cys102=)

gnomAD frequency: 0.71888  dbSNP: rs6500526

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000123492	SCV000166830	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	RCV001523137	SCV001732801	benign	Combined malonic and methylmalonic acidemia	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001523137	SCV001750298	benign	Combined malonic and methylmalonic acidemia	2021-07-01	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000123492	SCV001741077	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000123492	SCV001959979	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001523137	SCV002089500	benign	Combined malonic and methylmalonic acidemia	2021-01-27	no assertion criteria provided	clinical testing