ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2236G>T (p.Ala746Ser)

gnomAD frequency: 0.00011  dbSNP: rs575108446
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001094355 SCV000399846 likely benign 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 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.
Invitae RCV000296465 SCV000751952 benign Fanconi anemia 2024-01-29 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001094355 SCV001736789 benign Fanconi anemia complementation group A 2021-05-18 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000296465 SCV002534945 likely benign Fanconi anemia 2022-02-09 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477892 SCV004221955 likely benign not provided 2023-03-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003950094 SCV004758298 likely benign FANCA-related disorder 2022-05-26 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. RCV001094355 SCV001458830 benign Fanconi anemia complementation group A 2020-05-08 no assertion criteria provided clinical testing

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