ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3801C>T (p.Gly1267=)

gnomAD frequency: 0.00022  dbSNP: rs143772894
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000861812 SCV001002215 likely benign Fanconi anemia 2024-01-15 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV002478951 SCV002010175 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000861812 SCV002535027 likely benign Fanconi anemia 2021-02-18 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002478951 SCV002774150 likely benign not provided 2023-08-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002478951 SCV004143593 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing FANCA: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003928338 SCV004737733 likely benign FANCA-related condition 2019-09-13 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).
Natera, Inc. RCV001274555 SCV001458811 uncertain significance Fanconi anemia complementation group A 2020-01-17 no assertion criteria provided clinical testing

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