Submissions for variant NM_032861.4(SERAC1):c.1137A>G (p.Val379=)

gnomAD frequency: 0.00100  dbSNP: rs115846131

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000417868	SCV000516984	benign	not specified	2015-06-09	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	RCV000861163	SCV001001401	benign	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	2024-01-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000861163	SCV002554758	benign	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	2022-03-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000861163	SCV002800024	likely benign	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	2021-10-08	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003430983	SCV004156333	benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	SERAC1: BP4, BP7, BS1, BS2