ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.1073A>G (p.His358Arg)

dbSNP: rs1555367891
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Total submissions: 1
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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 RCV000512630 SCV000608294 likely pathogenic Alpha-1-antitrypsin deficiency 2014-12-08 no assertion criteria provided curation Clinical significance based upon enzyme reduction

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