ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.695+16G>C

gnomAD frequency: 0.20237  dbSNP: rs17032283
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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 RCV000248075 SCV000305881 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001618399 SCV001843442 benign not provided 2019-02-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001701888 SCV001933064 benign Fanconi anemia complementation group D2 2021-08-10 criteria provided, single submitter clinical testing
Invitae RCV002057414 SCV002361008 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 RCV002225557 SCV002505187 benign Hereditary breast ovarian cancer syndrome 2022-04-19 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001701888 SCV004017626 benign Fanconi anemia complementation group D2 2023-07-07 criteria provided, single submitter clinical testing

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