ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.3135C>T (p.Asp1045=)

dbSNP: rs146289653
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000927564 SCV001073150 likely benign not provided 2024-01-21 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001117938 SCV001276183 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003762915 SCV004564877 likely benign Anemia, congenital dyserythropoietic, type 1a 2023-11-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003960460 SCV004768161 likely benign CDAN1-related disorder 2022-07-05 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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