ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe)

gnomAD frequency: 0.00708  dbSNP: rs117125761
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193016 SCV000247352 benign not specified 2016-07-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001084635 SCV000261716 benign Fanconi anemia 2024-01-31 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224770 SCV000281305 likely benign not provided 2015-12-23 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
PreventionGenetics, part of Exact Sciences RCV000193016 SCV000306639 benign not specified criteria provided, single submitter clinical testing
Mendelics RCV000989374 SCV001139671 likely benign Fanconi anemia complementation group A 2019-05-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001117437 SCV001275623 likely benign 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 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.
GeneDx RCV000224770 SCV001816453 likely benign not provided 2021-06-02 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001117437 SCV004015670 benign Fanconi anemia complementation group I 2023-07-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000224770 SCV004137600 benign not provided 2024-08-01 criteria provided, single submitter clinical testing FANCI: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000224770 SCV005213915 likely benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000224770 SCV001797624 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000193016 SCV001808370 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000224770 SCV001964525 likely benign not provided no assertion criteria provided clinical testing

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