Submissions for variant NM_006363.6(SEC23B):c.490G>T (p.Val164Leu)

gnomAD frequency: 0.00602  dbSNP: rs36023150

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081408	SCV000113339	benign	not specified	2014-06-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000269836	SCV000433007	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.
Invitae	RCV000560193	SCV000637257	benign	Congenital dyserythropoietic anemia, type II; Cowden syndrome 7	2024-02-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001811382	SCV002049322	likely benign	not provided	2023-07-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001811382	SCV004149915	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	SEC23B: BS1, BS2
OMIM	RCV000210063	SCV000265993	uncertain significance	Cowden syndrome 7	2018-07-11	no assertion criteria provided	literature only