ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.324C>T (p.Leu108=)

gnomAD frequency: 0.00001  dbSNP: rs1555369128
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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) RCV000596999 SCV000702419 uncertain significance not provided 2016-11-03 criteria provided, single submitter clinical testing
Invitae RCV001410329 SCV001612374 likely benign Alpha-1-antitrypsin deficiency 2018-06-23 criteria provided, single submitter clinical testing

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