ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2021C>T (p.Ser674Leu)

gnomAD frequency: 0.00257  dbSNP: rs17232973
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230217 SCV000283548 benign Fanconi anemia 2024-01-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000499617 SCV000594637 benign not specified 2021-04-29 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000230217 SCV002534935 benign Fanconi anemia 2020-12-19 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002503887 SCV002812026 likely benign Fanconi anemia complementation group A 2021-12-16 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV002503887 SCV004017573 benign Fanconi anemia complementation group A 2023-07-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003907847 SCV004718377 benign FANCA-related disorder 2022-04-11 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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