Submissions for variant NM_012213.3(MLYCD):c.528+19T>C

gnomAD frequency: 0.96188  dbSNP: rs446036

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081528	SCV000113459	benign	not specified	2012-11-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000081528	SCV000170303	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000609599	SCV001730014	benign	Deficiency of malonyl-CoA decarboxylase	2025-02-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000609599	SCV002014235	benign	Deficiency of malonyl-CoA decarboxylase	2021-09-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004709238	SCV005251406	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000609599	SCV000733519	benign	Deficiency of malonyl-CoA decarboxylase		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000081528	SCV001925449	benign	not specified		no assertion criteria provided	clinical testing