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
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
Illumina Clinical Services Laboratory,Illumina RCV000380179 SCV000389645 likely benign Alpha-1-antitrypsin deficiency 2016-06-14 criteria provided, single submitter clinical testing
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)
OMIM RCV000019558 SCV000039855 other PI M3 2016-07-15 no assertion criteria provided literature only
PreventionGenetics RCV000155574 SCV000303519 benign not specified criteria provided, single submitter clinical testing

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