ClinVar Miner

Submissions for variant NM_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys) (rs121912712)

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Total submissions: 4
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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 RCV000201867 SCV000608299 benign Alpha-1-antitrypsin deficiency 2014-12-08 no assertion criteria provided curation
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000597262 SCV000703710 uncertain significance not provided 2017-05-19 criteria provided, single submitter clinical testing
GeneReviews RCV000201867 SCV000256616 benign Alpha-1-antitrypsin deficiency 2014-05-01 no assertion criteria provided literature only
OMIM RCV000019564 SCV000039861 other PI CHRISTCHURCH 2016-07-15 no assertion criteria provided literature only

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