ClinVar Miner

Submissions for variant NM_005989.4(AKR1D1):c.940T>C (p.Trp314Arg)

dbSNP: rs1315777461
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000985019 SCV003924353 likely pathogenic Congenital bile acid synthesis defect 2 2023-05-08 criteria provided, single submitter research
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985019 SCV001132951 uncertain significance Congenital bile acid synthesis defect 2 2019-08-25 no assertion criteria provided clinical testing

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