ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.522G>A (p.Gly174=)

gnomAD frequency: 0.00078  dbSNP: rs145648734
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001465677 SCV001669668 likely benign Fanconi anemia complementation group E 2025-01-13 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255549 SCV002527963 likely benign Fanconi anemia 2022-01-25 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV001465677 SCV002807508 likely benign Fanconi anemia complementation group E 2021-08-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908171 SCV004725879 likely benign FANCE-related disorder 2019-07-30 no assertion criteria provided 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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