Submissions for variant NM_006363.6(SEC23B):c.770C>T (p.Thr257Ile)

gnomAD frequency: 0.01006  dbSNP: rs146917730

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001619877	SCV001159273	likely benign	not provided	2023-05-13	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001143287	SCV001303795	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.
Invitae	RCV001516029	SCV001724232	benign	Congenital dyserythropoietic anemia, type II; Cowden syndrome 7	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001619877	SCV001847528	benign	not provided	2020-03-27	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25251786)
Mayo Clinic Laboratories, Mayo Clinic	RCV001619877	SCV002541678	uncertain significance	not provided	2023-05-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001619877	SCV004149917	benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	SEC23B: BS1, BS2