ClinVar Miner

Submissions for variant NM_000354.5(SERPINA7):c.631G>A (p.Ala211Thr) (rs2234036)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490381 SCV000267496 uncertain significance Thyroxine-binding globulin deficiency 2016-03-18 criteria provided, single submitter reference population
Invitae RCV000953779 SCV001100367 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
OMIM RCV000010439 SCV000030665 pathogenic Thyroxine-binding globulin, variant A 1989-04-01 no assertion criteria provided literature only

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