ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.284A>G (p.Gln95Arg)

gnomAD frequency: 0.00098  dbSNP: rs149097636
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000649010 SCV000770831 likely benign Fanconi anemia complementation group E 2024-11-18 criteria provided, single submitter clinical testing
Baylor Genetics RCV000649010 SCV002030193 uncertain significance Fanconi anemia complementation group E 2021-11-24 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Sema4, Sema4 RCV002256452 SCV002527957 uncertain significance Fanconi anemia 2021-09-05 criteria provided, single submitter curation
GeneDx RCV002269298 SCV002552840 uncertain significance not provided 2022-01-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003937954 SCV004760822 likely benign FANCE-related disorder 2022-02-17 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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