ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.1967C>G (p.Thr656Ser)

gnomAD frequency: 0.00296  dbSNP: rs139202766
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000401599 SCV000391108 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.
Invitae RCV000966434 SCV001113755 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001801782 SCV002048821 likely benign Anemia, congenital dyserythropoietic, type 1a 2023-09-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000966434 SCV004136461 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing CDAN1: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003972347 SCV004791726 likely benign CDAN1-related disorder 2021-08-23 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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