ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.443C>T (p.Ala148Val)

gnomAD frequency: 0.06134  dbSNP: rs73410959
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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 RCV000244166 SCV000315740 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000384534 SCV000391122 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 RCV001801668 SCV001473910 benign Anemia, congenital dyserythropoietic, type 1a 2023-11-22 criteria provided, single submitter clinical testing
GeneDx RCV001651267 SCV001869515 benign not provided 2021-05-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29146883)
Invitae RCV001651267 SCV002372833 benign not provided 2024-01-29 criteria provided, single submitter clinical testing

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