ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.399C>T (p.His133=)

gnomAD frequency: 0.00025  dbSNP: rs56190097
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000560795 SCV000626201 benign Fanconi anemia 2024-01-20 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000560795 SCV002535036 likely benign Fanconi anemia 2021-01-25 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002497051 SCV002808515 likely benign Fanconi anemia complementation group A 2022-02-12 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV002497051 SCV004017586 benign Fanconi anemia complementation group A 2023-07-07 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478122 SCV004218596 benign not provided 2022-04-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003960256 SCV004772515 likely benign FANCA-related condition 2019-07-31 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).

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