ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.3466+10C>T

gnomAD frequency: 0.00034  dbSNP: rs200208121
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000865720 SCV001006733 benign Fanconi anemia 2024-01-24 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001145654 SCV001306345 uncertain significance Fanconi anemia complementation group D2 2018-02-16 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.
PreventionGenetics, part of Exact Sciences RCV003965699 SCV004779495 likely benign FANCD2-related condition 2020-09-30 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).
Genetic Services Laboratory, University of Chicago RCV003151165 SCV003839512 likely benign not specified 2022-09-23 no assertion criteria provided clinical testing

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