ClinVar Miner

Submissions for variant NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu) (rs199422209)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409001 SCV000486942 likely pathogenic Alpha-1-antitrypsin deficiency 2016-09-09 criteria provided, single submitter clinical testing
Department of Laboratory Medicine and Genetics,Trillium Health Partners Credit Valley Hospital RCV000409001 SCV000608300 pathogenic Alpha-1-antitrypsin deficiency 2014-12-08 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727230 SCV000706787 pathogenic not provided 2017-03-14 criteria provided, single submitter clinical testing
GeneReviews RCV000409001 SCV000256621 pathogenic Alpha-1-antitrypsin deficiency 2014-05-01 no assertion criteria provided literature only
OMIM RCV000019565 SCV000039862 other PI M(HEERLEN) 2016-07-20 no assertion criteria provided literature only

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