ClinVar Miner

Submissions for variant NM_025193.4(HSD3B7):c.439G>A (p.Glu147Lys)

gnomAD frequency: 0.00001  dbSNP: rs104894518
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726577 SCV000345645 pathogenic not provided 2016-08-25 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000003018 SCV003825256 pathogenic Congenital bile acid synthesis defect 1 2022-01-05 criteria provided, single submitter clinical testing
OMIM RCV000003018 SCV000023176 pathogenic Congenital bile acid synthesis defect 1 2003-04-01 no assertion criteria provided literature only

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