ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.903G>T (p.Val301=)

gnomAD frequency: 0.00432  dbSNP: rs56062548
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230381 SCV000283577 benign Fanconi anemia 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001120564 SCV001279058 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001800588 SCV002047072 benign not provided 2021-05-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818562 SCV002065310 benign not specified 2021-02-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001120564 SCV002797765 likely benign Fanconi anemia complementation group A 2021-08-05 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001120564 SCV004017581 benign Fanconi anemia complementation group A 2023-07-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV000230381 SCV002095088 likely benign Fanconi anemia 2019-12-09 no assertion criteria provided clinical testing

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