ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.195G>C (p.Gln65His)

gnomAD frequency: 0.00738  dbSNP: rs36084488
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services,Illumina RCV001094769 SCV000439460 benign 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000431377 SCV000511060 benign not provided 2017-01-04 criteria provided, single submitter clinical testing
Invitae RCV000329799 SCV000626467 benign Fanconi anemia 2021-11-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000120993 SCV002051023 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000120993 SCV002070974 benign not specified 2021-01-07 criteria provided, single submitter clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV002225379 SCV002505175 benign Hereditary breast ovarian cancer syndrome 2022-04-19 criteria provided, single submitter clinical testing
Sema4,Sema4 RCV000329799 SCV002529478 benign Fanconi anemia 2020-10-16 criteria provided, single submitter curation
ITMI RCV000120993 SCV000085161 not provided not specified 2013-09-19 no assertion provided reference population

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