ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1290G>T (p.Ala430=)

dbSNP: rs1800332
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000526863 SCV000626144 likely benign Fanconi anemia 2024-01-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483351 SCV002802345 likely benign Fanconi anemia complementation group A 2021-12-24 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV002483351 SCV004017577 likely benign Fanconi anemia complementation group A 2023-07-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003942727 SCV004758861 likely benign FANCA-related disorder 2019-02-28 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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