ClinVar Miner

Submissions for variant NM_001127701.1(SERPINA1):c.415G>A (p.Gly139Ser) (rs11558261)

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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 RCV000512622 SCV000608315 pathogenic Alpha-1-antitrypsin deficiency 2014-12-08 no assertion criteria provided curation Reduced enzyme activity
OMIM RCV000019597 SCV000039895 other PI NULL(DEVON) 2016-07-15 no assertion criteria provided literature only
OMIM RCV000019598 SCV000039896 other PI Q0(DEVON) 2016-07-15 no assertion criteria provided literature only
OMIM RCV000019599 SCV000039897 other PI NULL(NEWPORT) 2016-07-15 no assertion criteria provided literature only
OMIM RCV000019600 SCV000039898 other PI Q0(NEWPORT) 2016-07-15 no assertion criteria provided literature only

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