ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.207T>C (p.Cys69=)

gnomAD frequency: 0.00001  dbSNP: rs941660593
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002145848 SCV002458277 likely benign Fanconi anemia 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494452 SCV002799365 likely benign Fanconi anemia complementation group A 2022-04-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003895961 SCV004708413 likely benign FANCA-related disorder 2021-04-08 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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