ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.426G>T (p.Leu142=)

gnomAD frequency: 0.00003  dbSNP: rs758835662
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001451599 SCV001655234 likely benign Alpha-1-antitrypsin deficiency 2018-12-07 criteria provided, single submitter clinical testing

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