ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.2263-5G>A

gnomAD frequency: 0.00311  dbSNP: rs190802841
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000880887 SCV001024012 benign not provided 2024-01-12 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001118043 SCV001276297 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000880887 SCV001716220 uncertain significance not provided 2020-10-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001804041 SCV002050246 likely benign Anemia, congenital dyserythropoietic, type 1a 2023-11-16 criteria provided, single submitter clinical testing

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