ClinVar Miner

Submissions for variant NM_001113525.2(ZNF276):c.*1313A>G

gnomAD frequency: 0.00012  dbSNP: rs368376237
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001094403 SCV000399814 likely benign Fanconi anemia complementation group A 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000276761 SCV000558859 benign Fanconi anemia 2024-02-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001508799 SCV001715178 uncertain significance not provided 2021-04-06 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001508799 SCV002046964 likely benign not provided 2022-07-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820953 SCV002068245 likely benign not specified 2019-09-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003950093 SCV004761739 likely benign FANCA-related disorder 2022-02-03 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).
Natera, Inc. RCV001094403 SCV001458808 likely benign Fanconi anemia complementation group A 2019-12-24 no assertion criteria provided clinical testing

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