ClinVar Miner

Submissions for variant NM_000295.4(SERPINA1):c.721A>T (p.Lys241Ter) (rs199422211)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169162 SCV000220390 likely pathogenic Alpha-1-antitrypsin deficiency 2014-06-06 criteria provided, single submitter literature only
Department of Laboratory Medicine and Genetics,Trillium Health Partners Credit Valley Hospital RCV000169162 SCV000608325 pathogenic Alpha-1-antitrypsin deficiency 2014-12-08 no assertion criteria provided curation
OMIM RCV000019581 SCV000039878 other PI NULL(BELLINGHAM) 2016-07-15 no assertion criteria provided literature only
OMIM RCV000019582 SCV000039879 other PI Q0(BELLINGHAM) 2016-07-15 no assertion criteria provided literature only

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