ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.740G>A (p.Arg247His)

gnomAD frequency: 0.00003  dbSNP: rs544632177
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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) RCV000298533 SCV000340912 uncertain significance not provided 2017-11-15 criteria provided, single submitter clinical testing
Invitae RCV002059215 SCV002434311 likely benign Alpha-1-antitrypsin deficiency 2023-11-02 criteria provided, single submitter clinical testing

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