ClinVar Miner

Submissions for variant NM_025193.4(HSD3B7):c.557C>T (p.Thr186Met)

gnomAD frequency: 0.00001  dbSNP: rs141929596
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332606 SCV001524981 uncertain significance Congenital bile acid synthesis defect 1 2019-10-04 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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