ClinVar Miner

Submissions for variant NM_025193.4(HSD3B7):c.1031A>G (p.Tyr344Cys)

gnomAD frequency: 0.00001  dbSNP: rs907386068
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001839065 SCV002098957 uncertain significance Congenital bile acid synthesis defect 1 2021-03-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001839065 SCV002783786 uncertain significance Congenital bile acid synthesis defect 1 2022-01-12 criteria provided, single submitter clinical testing

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