ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.801T>C (p.Val267=)

gnomAD frequency: 0.00028  dbSNP: rs55660936
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000871880 SCV001013607 likely benign Fanconi anemia 2023-11-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501314 SCV002805770 likely benign Fanconi anemia complementation group A 2021-12-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003948176 SCV004763403 likely benign FANCA-related disorder 2019-03-26 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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