ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.436G>A (p.Glu146Lys)

gnomAD frequency: 0.00005  dbSNP: rs537285845
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728262 SCV000855813 uncertain significance not provided 2017-07-17 criteria provided, single submitter clinical testing
Department of Laboratory Medicine and Genetics, Trillium Health Partners Credit Valley Hospital RCV000512629 SCV000608317 uncertain significance Alpha-1-antitrypsin deficiency 2014-12-08 no assertion criteria provided clinical testing

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