ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.2487T>G (p.Leu829=)

gnomAD frequency: 0.00155  dbSNP: rs145762491
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193501 SCV000247353 benign not specified 2021-05-26 criteria provided, single submitter clinical testing
Invitae RCV000231441 SCV000285890 benign Fanconi anemia 2024-01-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001121009 SCV001279542 uncertain significance Fanconi anemia complementation group I 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, 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.
CeGaT Center for Human Genetics Tuebingen RCV001532265 SCV001747743 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing FANCI: BP4, BP7
Sema4, Sema4 RCV000231441 SCV002529823 likely benign Fanconi anemia 2021-06-30 criteria provided, single submitter curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001121009 SCV004015665 benign Fanconi anemia complementation group I 2023-07-07 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001532265 SCV001797982 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001532265 SCV001809378 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001532265 SCV001978267 likely benign not provided no assertion criteria provided clinical testing

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