ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.450A>G (p.Leu150=)

gnomAD frequency: 0.00001  dbSNP: rs146596574
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729855 SCV000857547 uncertain significance not provided 2017-10-13 criteria provided, single submitter clinical testing
Invitae RCV001414765 SCV001616908 likely benign Alpha-1-antitrypsin deficiency 2021-07-07 criteria provided, single submitter clinical testing

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