ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.1158del (p.Glu387fs)

dbSNP: rs764325655
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV000512620 SCV002807602 likely pathogenic Alpha-1-antitrypsin deficiency 2022-05-10 criteria provided, single submitter clinical testing
OMIM RCV000019589 SCV000039887 other PI NULL(BOLTON) 2016-07-20 no assertion criteria provided literature only
OMIM RCV000019590 SCV000039888 other PI Q0(BOLTON) 2016-07-20 no assertion criteria provided literature only
Department of Laboratory Medicine and Genetics, Trillium Health Partners Credit Valley Hospital RCV000512620 SCV000608298 pathogenic Alpha-1-antitrypsin deficiency 2014-12-08 no assertion criteria provided curation

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