ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.2754A>G (p.Leu918=)

gnomAD frequency: 0.00013  dbSNP: rs149395670
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001413855 SCV001615976 benign Fanconi anemia 2024-01-21 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001413855 SCV002529502 likely benign Fanconi anemia 2020-12-08 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002493974 SCV002803492 likely benign Fanconi anemia complementation group D2 2021-11-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003433145 SCV004146908 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing FANCD2: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003963307 SCV004780260 likely benign FANCD2-related disorder 2023-05-30 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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