ClinVar Miner

Submissions for variant NM_005989.4(AKR1D1):c.509A>G (p.Asn170Ser)

gnomAD frequency: 0.00001  dbSNP: rs753124330
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332699 SCV001525089 uncertain significance Congenital bile acid synthesis defect 2 2020-09-23 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001332699 SCV004805431 likely pathogenic Congenital bile acid synthesis defect 2 2024-03-25 criteria provided, single submitter research

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