Submissions for variant NM_138477.4(CDAN1):c.2263-5G>A

gnomAD frequency: 0.00311  dbSNP: rs190802841

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000880887	SCV001024012	benign	not provided	2025-01-07	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001118043	SCV001276297	likely benign	Congenital dyserythropoietic anemia, type I	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Mayo Clinic Laboratories, Mayo Clinic	RCV000880887	SCV001716220	uncertain significance	not provided	2020-10-27	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001804041	SCV002050246	likely benign	Anemia, congenital dyserythropoietic, type 1a	2024-06-11	criteria provided, single submitter	clinical testing