Submissions for variant NM_006363.6(SEC23B):c.1298C>T (p.Pro433Leu)

gnomAD frequency: 0.10334  dbSNP: rs17807673

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081399	SCV000113330	benign	not specified	2013-04-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000081399	SCV000311460	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000317780	SCV000433014	benign	Congenital dyserythropoietic anemia, type II	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001682777	SCV001474224	benign	not provided	2023-11-30	criteria provided, single submitter	clinical testing
Invitae	RCV001522156	SCV001731638	benign	Congenital dyserythropoietic anemia, type II; Cowden syndrome 7	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001682777	SCV001896246	benign	not provided	2018-09-10	criteria provided, single submitter	clinical testing