ClinVar Miner

Submissions for variant NM_001127701.1(SERPINA1):c.347T>A (p.Ile116Asn) (rs28931572)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000019601 SCV000039899 other PI NULL(LUDWIGSHAFEN) 2016-07-20 no assertion criteria provided literature only
OMIM RCV000019602 SCV000039900 other PI Q0(LUDWIGSHAFEN) 2016-07-20 no assertion criteria provided literature only
GeneReviews RCV000201851 SCV000256625 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 RCV000201851 SCV000608313 pathogenic Alpha-1-antitrypsin deficiency 2014-12-08 no assertion criteria provided curation Reduced enzyme activity

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