ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.1143C>T (p.Asp381=)

gnomAD frequency: 0.00025  dbSNP: rs376349741
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000862072 SCV001002515 likely benign Fanconi anemia 2023-10-13 criteria provided, single submitter clinical testing
Mendelics RCV000987098 SCV001136296 likely benign Fanconi anemia complementation group A 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001171829 SCV001334699 likely benign not provided 2020-02-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816939 SCV002071288 likely benign not specified 2020-09-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507466 SCV002795279 likely benign Fanconi anemia complementation group D2 2022-03-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965650 SCV004777952 likely benign FANCD2-related disorder 2019-04-16 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).

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