ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.246G>A (p.Glu82=)

gnomAD frequency: 0.00018  dbSNP: rs769779495
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001467471 SCV001671495 likely benign Fanconi anemia complementation group E 2024-12-20 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001467471 SCV004017674 likely benign Fanconi anemia complementation group E 2023-07-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003960073 SCV004784761 likely benign FANCE-related disorder 2021-10-30 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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