ClinVar Miner

Submissions for variant NM_000477.7(ALB):c.725G>A (p.Arg242His) (rs75002628)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000019886 SCV000267207 uncertain significance Hyperthyroxinemia, familial dysalbuminemic 2016-03-18 criteria provided, single submitter reference population
OMIM RCV000019886 SCV000040184 pathogenic Hyperthyroxinemia, familial dysalbuminemic 1994-07-29 no assertion criteria provided literature only

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