ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1494T>C (p.Ala498=)

gnomAD frequency: 0.00005  dbSNP: rs76895298
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205349 SCV000260816 benign Fanconi anemia 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568553 SCV000673317 likely benign Hereditary cancer-predisposing syndrome 2017-10-31 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Illumina Laboratory Services, Illumina RCV001167957 SCV001330508 uncertain significance Fanconi anemia complementation group C 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001260352 SCV001437293 likely benign not specified 2020-09-11 criteria provided, single submitter clinical testing
GeneDx RCV001657994 SCV001873201 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000205349 SCV002535094 likely benign Fanconi anemia 2021-07-09 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV001657994 SCV004160157 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing FANCC: BP4, BP7, BS2
Natera, Inc. RCV000205349 SCV002081143 likely benign Fanconi anemia 2017-05-10 no assertion criteria provided clinical testing

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