ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3348+7G>T

gnomAD frequency: 0.00016  dbSNP: rs185527578
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000989671 SCV000399828 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV000394021 SCV000752012 benign Fanconi anemia 2024-01-29 criteria provided, single submitter clinical testing
Mendelics RCV000989671 SCV001140203 likely benign Fanconi anemia complementation group A 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000858420 SCV001151104 likely benign not provided 2019-01-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820954 SCV002066501 likely benign not specified 2019-06-14 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000394021 SCV002534996 likely benign Fanconi anemia 2021-06-05 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003940263 SCV004749008 likely benign FANCA-related disorder 2019-06-05 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. RCV000989671 SCV001458818 likely benign Fanconi anemia complementation group A 2020-01-07 no assertion criteria provided clinical testing

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