ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.745G>C (p.Gly249Arg)

gnomAD frequency: 0.00001  dbSNP: rs764220898
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169405 SCV000220804 likely pathogenic Alpha-1-antitrypsin deficiency 2014-10-15 criteria provided, single submitter literature only
Baylor Genetics RCV000169405 SCV004203136 pathogenic Alpha-1-antitrypsin deficiency 2023-04-11 criteria provided, single submitter clinical testing
Department of Laboratory Medicine and Genetics, Trillium Health Partners Credit Valley Hospital RCV000169405 SCV000608327 uncertain significance Alpha-1-antitrypsin deficiency 2014-12-08 no assertion criteria provided curation

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