ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.816C>A (p.Thr272=)

gnomAD frequency: 0.06184  dbSNP: rs76599133
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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 RCV000245875 SCV000315743 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001000319 SCV000391117 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 RCV001801671 SCV001157009 benign Anemia, congenital dyserythropoietic, type 1a 2023-11-22 criteria provided, single submitter clinical testing
GeneDx RCV001597027 SCV001830131 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Invitae RCV001597027 SCV002381030 benign not provided 2024-01-29 criteria provided, single submitter clinical testing

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