ClinVar Miner

Submissions for variant NM_001127701.1(SERPINA1):c.230C>T (p.Ser77Phe)

dbSNP: rs55819880
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169508 SCV000220973 pathogenic Alpha-1-antitrypsin deficiency 2014-12-18 criteria provided, single submitter literature only
OMIM RCV000019608 SCV000039906 other PI S(IIYAMA) 2016-07-15 no assertion criteria provided literature only
GeneReviews RCV000169508 SCV000256615 not provided Alpha-1-antitrypsin deficiency no assertion provided literature only
Department of Laboratory Medicine and Genetics, Trillium Health Partners Credit Valley Hospital RCV000169508 SCV000608309 pathogenic Alpha-1-antitrypsin deficiency 2014-12-08 no assertion criteria provided curation Reduced enzyme activity

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