ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.601C>T (p.Pro201Ser)

gnomAD frequency: 0.00895  dbSNP: rs144917960
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001094308 SCV000399881 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.
Invitae RCV000330085 SCV000558856 benign Fanconi anemia 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001706516 SCV001858051 benign not provided 2020-04-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820960 SCV002065332 benign not specified 2021-08-24 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001706516 SCV004218634 benign not provided 2022-08-23 criteria provided, single submitter clinical testing

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