ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.903T>A (p.Leu301=)

gnomAD frequency: 0.00002  dbSNP: rs752360517
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001489576 SCV001694119 likely benign Fanconi anemia 2024-09-08 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001489576 SCV002529539 likely benign Fanconi anemia 2020-10-08 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV003883667 SCV004699020 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing FANCD2: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003908750 SCV004726516 likely benign FANCD2-related disorder 2019-08-06 no assertion criteria provided 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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