ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2502G>A (p.Leu834=)

gnomAD frequency: 0.00001  dbSNP: rs770993950
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000550322 SCV000626166 likely benign Fanconi anemia 2024-01-10 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316675 SCV004017587 likely benign Fanconi anemia complementation group A 2023-07-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900107 SCV004709609 likely benign FANCA-related disorder 2022-11-02 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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