ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.694A>C (p.Arg232=)

gnomAD frequency: 0.00184  dbSNP: rs61757384
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229339 SCV000283571 benign Fanconi anemia 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001117078 SCV001275234 uncertain significance Fanconi anemia complementation group A 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 RCV001532335 SCV001747851 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing FANCA: BP4, BP7
GeneDx RCV001532335 SCV001983870 likely benign not provided 2021-03-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23021409)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002478833 SCV002046844 benign not specified 2021-04-04 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000229339 SCV002535068 likely benign Fanconi anemia 2020-10-22 criteria provided, single submitter curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001117078 SCV004017569 likely benign Fanconi anemia complementation group A 2023-07-07 criteria provided, single submitter clinical testing

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