ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1830A>G (p.Ala610=)

gnomAD frequency: 0.00201  dbSNP: rs1800338
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001083776 SCV000283547 benign Fanconi anemia 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000253440 SCV000302470 likely benign not specified criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000761973 SCV000892202 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing FANCA: BP4, BP7
Illumina Laboratory Services, Illumina RCV001120466 SCV001278950 likely benign Fanconi anemia complementation group A 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 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 RCV000761973 SCV001794194 likely benign not provided 2021-03-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23021409)
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV000761973 SCV002010197 likely benign not provided 2021-11-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000253440 SCV002065277 likely benign not specified 2021-08-25 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001083776 SCV002534928 benign Fanconi anemia 2020-11-30 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000253440 SCV002774501 benign not specified 2021-08-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001120466 SCV002807423 likely benign Fanconi anemia complementation group A 2021-08-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001083776 SCV002095002 likely benign Fanconi anemia 2019-12-09 no assertion criteria provided clinical testing

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