Submissions for variant NM_138477.4(CDAN1):c.3474A>C (p.Leu1158=)

gnomAD frequency: 0.41429  dbSNP: rs16957091

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000252774	SCV000315739	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000320700	SCV000391075	benign	Congenital dyserythropoietic anemia, type I	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001801667	SCV001471229	benign	Anemia, congenital dyserythropoietic, type 1a	2023-11-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001610746	SCV001832820	benign	not provided	2021-05-04	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001610746	SCV002407156	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001610746	SCV005289919	benign	not provided		criteria provided, single submitter	not provided