ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3265G>A (p.Val1089Ile)

dbSNP: rs536839082
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001094354 SCV000399829 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000313365 SCV001009760 benign Fanconi anemia 2024-01-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001094354 SCV001786765 likely benign Fanconi anemia complementation group A 2021-07-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820955 SCV002071372 likely benign not specified 2021-03-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003910222 SCV004726970 likely benign FANCA-related disorder 2021-09-07 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001094354 SCV001458820 benign Fanconi anemia complementation group A 2019-10-28 no assertion criteria provided clinical testing

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