ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.857A>G (p.Gln286Arg)

gnomAD frequency: 0.00303  dbSNP: rs13336566
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469548 SCV000558865 benign Fanconi anemia 2024-01-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000120911 SCV000594642 likely benign not specified 2016-03-10 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001115652 SCV001273647 likely benign Fanconi anemia complementation group A 2018-01-12 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001509536 SCV001716292 uncertain significance not provided 2021-08-17 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000469548 SCV002535078 likely benign Fanconi anemia 2021-01-26 criteria provided, single submitter curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001115652 SCV004017574 likely benign Fanconi anemia complementation group A 2023-07-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905153 SCV004719504 likely benign FANCA-related disorder 2019-03-20 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).
ITMI RCV000120911 SCV000085079 not provided not specified 2013-09-19 no assertion provided reference population
Natera, Inc. RCV001115652 SCV001462959 benign Fanconi anemia complementation group A 2019-12-30 no assertion criteria provided clinical testing

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