ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.1440T>C (p.His480=)

gnomAD frequency: 0.00003  dbSNP: rs375412395
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234648 SCV000291154 likely benign Fanconi anemia 2023-12-07 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001144941 SCV001305565 uncertain significance Fanconi anemia complementation group D2 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.
GeneDx RCV001557731 SCV001779546 likely benign not provided 2019-07-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 11239453, 16280053)
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV002225530 SCV002505202 benign Hereditary breast ovarian cancer syndrome 2022-04-19 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000234648 SCV002529462 likely benign Fanconi anemia 2021-04-27 criteria provided, single submitter curation

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