ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.439-16A>G

gnomAD frequency: 0.20185  dbSNP: rs17032278
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249626 SCV000305878 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001668451 SCV001885132 benign not provided 2019-02-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001701809 SCV001933052 benign Fanconi anemia complementation group D2 2021-08-10 criteria provided, single submitter clinical testing
Invitae RCV002057412 SCV002476642 benign Fanconi anemia 2024-02-01 criteria provided, single submitter clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV002225554 SCV002505181 benign Hereditary breast ovarian cancer syndrome 2022-04-19 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001701809 SCV004017625 benign Fanconi anemia complementation group D2 2023-07-07 criteria provided, single submitter clinical testing

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