ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.24C>G (p.Asn8Lys)

gnomAD frequency: 0.04436  dbSNP: rs76275444
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000120909 SCV000302479 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001094268 SCV000399893 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 RCV000371007 SCV000558876 benign Fanconi anemia 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001709492 SCV001938087 benign not provided 2019-03-20 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000120909 SCV002046817 benign not specified 2021-03-30 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001094268 SCV004017568 benign Fanconi anemia complementation group A 2023-07-07 criteria provided, single submitter clinical testing
ITMI RCV000120909 SCV000085077 not provided not specified 2013-09-19 no assertion provided reference population
Leiden Open Variation Database RCV001094268 SCV001426007 uncertain significance Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.
Natera, Inc. RCV001094268 SCV001459020 benign Fanconi anemia complementation group A 2020-09-16 no assertion criteria provided clinical testing

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