ClinVar Miner

Submissions for variant NM_025193.4(HSD3B7):c.1047G>C (p.Ser349=)

gnomAD frequency: 0.00007  dbSNP: rs746926891
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733285 SCV000861331 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000733285 SCV001061840 likely benign not provided 2024-07-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003938121 SCV004762270 likely benign HSD3B7-related disorder 2023-01-18 no assertion criteria provided 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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