ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.17T>A (p.Val6Asp)

gnomAD frequency: 0.06490  dbSNP: rs1800282
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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 RCV000120910 SCV000302466 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001094270 SCV000399895 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000120910 SCV000603555 benign not specified 2017-01-06 criteria provided, single submitter clinical testing
Invitae RCV000312371 SCV001000341 benign Fanconi anemia 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001705883 SCV001847831 benign not provided 2019-02-11 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001094270 SCV004017537 benign Fanconi anemia complementation group A 2023-07-07 criteria provided, single submitter clinical testing
ITMI RCV000120910 SCV000085078 not provided not specified 2013-09-19 no assertion provided reference population
Natera, Inc. RCV001094270 SCV001459022 benign Fanconi anemia complementation group A 2020-09-16 no assertion criteria provided clinical testing

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