ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1755C>G (p.Pro585=)

gnomAD frequency: 0.00010  dbSNP: rs144704750
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000869184 SCV001010592 likely benign Fanconi anemia 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507505 SCV002804758 likely benign Fanconi anemia complementation group A 2021-11-04 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478543 SCV004221931 likely benign not provided 2023-02-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003895295 SCV004712238 likely benign FANCA-related disorder 2022-05-31 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. RCV000869184 SCV002095014 likely benign Fanconi anemia 2020-02-04 no assertion criteria provided clinical testing

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