Submissions for variant NM_006363.6(SEC23B):c.2298C>T (p.Ala766=)

gnomAD frequency: 0.00228  dbSNP: rs77945587

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081406	SCV000113337	benign	not specified	2015-10-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000308861	SCV000433025	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000877918	SCV001020735	benign	Congenital dyserythropoietic anemia, type II; Cowden syndrome 7	2025-01-22	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001811381	SCV001472165	benign	not provided	2023-09-07	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000877918	SCV002800586	likely benign	Congenital dyserythropoietic anemia, type II; Cowden syndrome 7	2022-01-13	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001811381	SCV005314384	benign	not provided		criteria provided, single submitter	not provided