ClinVar Miner

Submissions for variant NM_001127701.1(SERPINA1):c.1145T>G (p.Met382Arg)

dbSNP: rs121912713
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000019591 SCV000039890 pathogenic Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation 1995-04-01 no assertion criteria provided literature only
GeneReviews RCV000201860 SCV000256629 pathogenic Alpha-1-antitrypsin deficiency 2014-05-01 no assertion criteria provided literature only
Department of Laboratory Medicine and Genetics, Trillium Health Partners Credit Valley Hospital RCV000201860 SCV000608297 pathogenic Alpha-1-antitrypsin deficiency 2014-12-08 no assertion criteria provided curation

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