ClinVar Miner

Submissions for variant NM_001127701.1(SERPINA1):c.552delC (p.Tyr184Terfs) (rs267606950)

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Total submissions: 3
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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 RCV000019579 SCV000608319 pathogenic Alpha-1-antitrypsin deficiency 2014-12-08 no assertion criteria provided curation
OMIM RCV000019579 SCV000039876 pathogenic Alpha-1-antitrypsin deficiency 1987-09-05 no assertion criteria provided literature only
OMIM RCV000019580 SCV000039877 other PI Q0(GRANITE FALLS) 2016-07-15 no assertion criteria provided literature only

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