ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.311T>C (p.Ile104Thr)

gnomAD frequency: 0.00115  dbSNP: rs143936557
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000228749 SCV000291161 likely benign Fanconi anemia 2024-01-25 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000239243 SCV000297343 uncertain significance not specified 2015-08-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000228749 SCV002529509 likely benign Fanconi anemia 2021-03-28 criteria provided, single submitter curation
GeneDx RCV002274988 SCV002562379 uncertain significance not provided 2023-05-19 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003967665 SCV004777317 likely benign FANCD2-related disorder 2022-09-23 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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