Submissions for variant NM_006363.6(SEC23B):c.519G>A (p.Val173=)

gnomAD frequency: 0.00040  dbSNP: rs138314893

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000395336	SCV000340705	uncertain significance	not provided	2016-03-24	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001079079	SCV001092111	likely benign	Congenital dyserythropoietic anemia, type II; Cowden syndrome 7	2025-01-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001141444	SCV001301788	uncertain significance	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000395336	SCV002048103	likely benign	not provided	2020-11-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000395336	SCV004149916	likely benign	not provided	2024-09-01	criteria provided, single submitter	clinical testing	SEC23B: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV004547716	SCV004721029	likely benign	SEC23B-related disorder	2020-07-13	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).