ClinVar Miner

Submissions for variant NM_000295.4(SERPINA1):c.1078G>A (p.Ala360Thr) (rs1802959)

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Total submissions: 3
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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 RCV000512619 SCV000608295 pathogenic Alpha-1-antitrypsin deficiency 2014-12-08 no assertion criteria provided curation Reduced enzyme activity
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000734987 SCV000863174 uncertain significance not provided 2018-08-28 criteria provided, single submitter clinical testing
OMIM RCV000019596 SCV000039894 other PI W(BETHESDA) 2016-07-15 no assertion criteria provided literature only

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