ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.1094A>T (p.Asp365Val)

gnomAD frequency: 0.00003  dbSNP: rs864622046
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HerediLab, Inc. RCV000205912 SCV000259192 likely benign Alpha-1-antitrypsin deficiency 2015-10-21 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000731082 SCV000858854 uncertain significance not provided 2017-12-28 criteria provided, single submitter clinical testing

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