ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.646+1G>T (rs751235320)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169461 SCV000220891 likely pathogenic Alpha-1-antitrypsin deficiency 2014-11-14 criteria provided, single submitter literature only
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000593270 SCV000706472 likely pathogenic not provided 2017-02-21 criteria provided, single submitter clinical testing
OMIM RCV000019606 SCV000039904 other PI NULL(WEST) 2016-07-15 no assertion criteria provided literature only
Department of Laboratory Medicine and Genetics,Trillium Health Partners Credit Valley Hospital RCV000169461 SCV000608321 pathogenic Alpha-1-antitrypsin deficiency 2014-12-08 no assertion criteria provided curation

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