ClinVar Miner

Submissions for variant NM_005989.4(AKR1D1):c.797G>A (p.Arg266Gln)

gnomAD frequency: 0.00004  dbSNP: rs182820353
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Inherited Metabolic Diseases, Karolinska University Hospital RCV001374413 SCV001571367 likely pathogenic Congenital bile acid synthesis defect 2 2021-04-13 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001374413 SCV003834683 likely pathogenic Congenital bile acid synthesis defect 2 2022-05-03 criteria provided, single submitter clinical testing

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