ClinVar Miner

Submissions for variant NM_000039.3(APOA1):c.*19C>G

gnomAD frequency: 0.00029  dbSNP: rs187335584
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000277267 SCV000367370 benign Hypoalphalipoproteinemia, primary, 1 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.
Illumina Laboratory Services, Illumina RCV000330090 SCV000367371 benign Familial visceral amyloidosis, Ostertag type 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.
Genome-Nilou Lab RCV000330090 SCV002539380 benign Familial visceral amyloidosis, Ostertag type 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259796 SCV002539381 benign Hypoalphalipoproteinemia, primary, 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259797 SCV002539382 benign Hypoalphalipoproteinemia, primary, 2, intermediate 2021-12-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003317187 SCV004020563 benign not specified 2023-06-25 criteria provided, single submitter clinical testing

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