Submissions for variant NM_006363.6(SEC23B):c.1233+9A>G

gnomAD frequency: 0.91788  dbSNP: rs6081189

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081398	SCV000113329	benign	not specified	2015-08-26	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000081398	SCV000311458	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000330664	SCV000433011	benign	Congenital dyserythropoietic anemia, type II	2018-01-13	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001636646	SCV001474223	benign	not provided	2023-11-30	criteria provided, single submitter	clinical testing
Invitae	RCV001511469	SCV001718721	benign	Congenital dyserythropoietic anemia, type II; Cowden syndrome 7	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001636646	SCV001852294	benign	not provided	2019-08-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001807019	SCV002054719	benign	Cowden syndrome 7	2021-07-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000330664	SCV002054720	benign	Congenital dyserythropoietic anemia, type II	2021-07-15	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000081398	SCV001742772	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000081398	SCV001953272	benign	not specified		no assertion criteria provided	clinical testing