Submissions for variant NM_032861.4(SERAC1):c.355+11A>G

gnomAD frequency: 0.42562  dbSNP: rs9356399

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000128024	SCV000171614	benign	not specified	2013-09-05	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000128024	SCV000540314	benign	not specified	2016-03-29	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Labcorp Genetics (formerly Invitae), Labcorp	RCV001509747	SCV001716608	benign	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001509747	SCV002054770	benign	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	2021-07-15	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000128024	SCV001741365	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000128024	SCV001952667	benign	not specified		no assertion criteria provided	clinical testing