ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.4185+33T>C

gnomAD frequency: 0.24884  dbSNP: rs2272124
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244460 SCV000305877 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001640501 SCV001858607 benign not provided 2019-02-11 criteria provided, single submitter clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV002225553 SCV002505252 benign Hereditary breast ovarian cancer syndrome 2022-04-19 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316356 SCV004017637 benign Fanconi anemia complementation group D2 2023-07-07 criteria provided, single submitter clinical testing

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