ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.4281+115C>A

gnomAD frequency: 0.00179  dbSNP: rs78896323
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000121003 SCV000594693 benign not specified 2021-06-11 criteria provided, single submitter clinical testing
Invitae RCV000630963 SCV000751939 likely benign Fanconi anemia 2024-01-29 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000630963 SCV002529534 likely benign Fanconi anemia 2020-12-01 criteria provided, single submitter curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315755 SCV004017645 likely benign Fanconi anemia complementation group D2 2023-07-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905154 SCV004727292 likely benign FANCD2-related disorder 2020-01-15 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
ITMI RCV000121003 SCV000085171 not provided not specified 2013-09-19 no assertion provided reference population

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