ClinVar Miner

Submissions for variant NM_001127701.1(SERPINA1):c.272G>A (p.Gly91Glu)

dbSNP: rs28931568
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000019566 SCV000039863 other PI M(MINERAL SPRINGS) 2016-07-15 no assertion criteria provided literature only
GeneReviews RCV000201855 SCV000256623 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 RCV000201855 SCV000608310 pathogenic Alpha-1-antitrypsin deficiency 2014-12-08 no assertion criteria provided curation Reduced enzyme activity

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