ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.2463G>A (p.Gly821=)

gnomAD frequency: 0.00204  dbSNP: rs139809959
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246612 SCV000315732 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000269472 SCV000391094 likely 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 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 RCV000963486 SCV001110645 benign not provided 2023-12-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002227106 SCV002506000 likely benign Anemia, congenital dyserythropoietic, type 1a 2022-02-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000963486 SCV004136456 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing CDAN1: BP4, BP7, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000963486 SCV001798221 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000246612 SCV001968950 benign not specified no assertion criteria provided clinical testing

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