ClinVar Miner

Submissions for variant NM_025193.4(HSD3B7):c.558G>A (p.Thr186=)

gnomAD frequency: 0.00008  dbSNP: rs760192112
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734590 SCV000862744 uncertain significance not provided 2018-08-03 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003133582 SCV003811253 uncertain significance Congenital bile acid synthesis defect 1 2020-11-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000734590 SCV004041966 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing HSD3B7: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003955478 SCV004773531 likely benign HSD3B7-related disorder 2022-03-03 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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