ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.932T>C (p.Ile311Thr)

gnomAD frequency: 0.00334  dbSNP: rs75501942
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234294 SCV000283578 benign Fanconi anemia 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000120913 SCV000302513 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001094444 SCV000399873 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.
Genetic Services Laboratory, University of Chicago RCV000120913 SCV002065299 benign not specified 2021-02-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001094444 SCV002796445 likely benign Fanconi anemia complementation group A 2022-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003421999 SCV004143616 benign not provided 2023-06-01 criteria provided, single submitter clinical testing FANCA: BP4, BS1, BS2
ITMI RCV000120913 SCV000085081 not provided not specified 2013-09-19 no assertion provided reference population
Natera, Inc. RCV001094444 SCV001457966 benign Fanconi anemia complementation group A 2020-09-16 no assertion criteria provided clinical testing

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