ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.1278+3_1278+5del

dbSNP: rs375350046
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003980193 SCV004797472 benign FANCD2-related disorder 2019-04-25 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000600750 SCV000734236 benign Fanconi anemia complementation group D2 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573159 SCV001798594 likely benign not provided no assertion criteria provided clinical testing

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