ClinVar Miner

Submissions for variant NM_001253823.1(BLVRA):c.131C>A (p.Ser44Ter)

dbSNP: rs387906596
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002267799 SCV002550767 pathogenic not provided 2025-03-04 criteria provided, single submitter clinical testing
OMIM RCV000022452 SCV000043741 pathogenic Hyperbiliverdinemia 2011-04-01 no assertion criteria provided literature only

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