ClinVar Miner

Submissions for variant NM_025193.4(HSD3B7):c.*1C>T

gnomAD frequency: 0.00009  dbSNP: rs781013516
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729260 SCV000856907 uncertain significance not provided 2017-09-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003947921 SCV004765967 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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