Submissions for variant NM_020451.3(SELENON):c.1092+6C>G

dbSNP: rs148071754

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000194503	SCV000248841	benign	not specified	2016-12-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000194503	SCV000313542	likely benign	not specified	2016-04-18	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000345511	SCV000357104	benign	SEPN1-Related Disorders	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000194503	SCV000523363	benign	not specified	2016-05-11	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	RCV000532540	SCV000634395	benign	Eichsfeld type congenital muscular dystrophy	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001795313	SCV002544251	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	SELENON: BP4, BS1, BS2
Clinical Genetics, Academic Medical Center	RCV000194503	SCV001921242	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000194503	SCV001926860	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000194503	SCV001956378	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001795313	SCV002035630	likely benign	not provided		no assertion criteria provided	clinical testing