ClinVar Miner

Submissions for variant NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp) (rs1303)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155574 SCV000205276 benign not specified 2013-06-13 criteria provided, single submitter clinical testing Benign based on MAF in ESP (10.71% in AA, 25.84% in EA)
PreventionGenetics,PreventionGenetics RCV000155574 SCV000303519 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000380179 SCV000389645 benign Alpha-1-antitrypsin deficiency 2018-01-12 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.
OMIM RCV000019558 SCV000039855 other PI M3 2016-07-15 no assertion criteria provided literature only
Department of Laboratory Medicine and Genetics,Trillium Health Partners Credit Valley Hospital RCV000380179 SCV000608301 benign Alpha-1-antitrypsin deficiency 2014-12-08 no assertion criteria provided curation

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