Submissions for variant NM_006363.6(SEC23B):c.1512T>C (p.Asn504=)

gnomAD frequency: 0.00271  dbSNP: rs138198461

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000990293	SCV000433021	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	RCV000736084	SCV000864350	likely benign	not specified	2017-05-04	criteria provided, single submitter	clinical testing	BS1, BP7; This alteration has an allele frequency that is greater than expected for the associated disease, and is a synonymous alteration with no predicted impact on splicing and/or occurring at a non-evolutionarily conserved nucleotide position.
Invitae	RCV000878440	SCV001021349	benign	Congenital dyserythropoietic anemia, type II; Cowden syndrome 7	2024-01-31	criteria provided, single submitter	clinical testing
Mendelics	RCV000990293	SCV001141225	likely benign	Congenital dyserythropoietic anemia, type II	2019-05-28	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV001509053	SCV001715555	uncertain significance	not provided	2023-01-26	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001509053	SCV002048312	likely benign	not provided	2023-06-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001509053	SCV002821062	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	SEC23B: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001509053	SCV001977905	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001509053	SCV001980526	likely benign	not provided		no assertion criteria provided	clinical testing