ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1290G>A (p.Ala430=)

dbSNP: rs1800332
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246529 SCV000302457 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001094427 SCV000399868 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.
Invitae RCV000397280 SCV000558877 benign Fanconi anemia 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001706287 SCV001837208 benign not provided 2019-03-20 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000246529 SCV002047043 benign not specified 2021-05-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001094427 SCV002795618 likely benign Fanconi anemia complementation group A 2021-12-24 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001094427 SCV004017567 benign Fanconi anemia complementation group A 2023-07-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001094427 SCV001457959 benign Fanconi anemia complementation group A 2020-09-16 no assertion criteria provided clinical testing

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