ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.918-9G>T

gnomAD frequency: 0.00001  dbSNP: rs752147685
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000866748 SCV001007883 likely benign Alpha-1-antitrypsin deficiency 2024-01-04 criteria provided, single submitter clinical testing

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