Submissions for variant NM_001243279.3(ACSF3):c.854C>T (p.Pro285Leu)

gnomAD frequency: 0.09373  dbSNP: rs143793502

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000427844	SCV000521559	benign	not specified	2016-03-08	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001000007	SCV000602385	benign	Combined malonic and methylmalonic acidemia	2022-03-07	criteria provided, single submitter	clinical testing
Invitae	RCV001000007	SCV000771503	benign	Combined malonic and methylmalonic acidemia	2024-02-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000427844	SCV002051040	likely benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001528491	SCV004138205	benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	ACSF3: BP4, BS1, BS2
Natera, Inc.	RCV001000007	SCV001457754	benign	Combined malonic and methylmalonic acidemia	2020-06-02	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528491	SCV001740316	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000427844	SCV001929621	benign	not specified		no assertion criteria provided	clinical testing