ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.2877A>G (p.Gln959=)

gnomAD frequency: 0.00023  dbSNP: rs145953386
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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 RCV000242304 SCV000305871 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000630974 SCV000751950 benign Fanconi anemia 2023-12-13 criteria provided, single submitter clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV002225548 SCV002505233 benign Hereditary breast ovarian cancer syndrome 2022-04-19 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316355 SCV004017663 likely benign Fanconi anemia complementation group D2 2023-07-07 criteria provided, single submitter clinical testing

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