ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.2408-3C>T

gnomAD frequency: 0.24113  dbSNP: rs12905385
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242217 SCV000315731 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000275478 SCV000391097 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 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 RCV001801664 SCV001471231 benign Anemia, congenital dyserythropoietic, type 1a 2023-11-30 criteria provided, single submitter clinical testing
GeneDx RCV001683131 SCV001898727 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Invitae RCV001683131 SCV002435245 benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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