ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.2997C>T (p.Ser999=)

gnomAD frequency: 0.00248  dbSNP: rs138675752
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229685 SCV000285895 benign Fanconi anemia 2021-12-17 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000247675 SCV000306645 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV001094317 SCV000394217 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.
Genetic Services Laboratory,University of Chicago RCV000247675 SCV000594720 likely benign not specified 2016-10-25 criteria provided, single submitter clinical testing
GeneDx RCV001569204 SCV001793237 likely benign not provided 2021-06-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000247675 SCV002050922 benign not specified 2021-12-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001569204 SCV002063441 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing
Sema4,Sema4 RCV000229685 SCV002529833 likely benign Fanconi anemia 2020-11-19 criteria provided, single submitter curation
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001569204 SCV001809613 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001569204 SCV001968695 likely benign not provided no assertion criteria provided clinical testing

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