ClinVar Miner

Submissions for variant NM_000348.4(SRD5A2):c.337C>G (p.Leu113Val)

gnomAD frequency: 0.00188  dbSNP: rs28383048
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001519907 SCV001728871 benign 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2024-01-16 criteria provided, single submitter clinical testing
GeneDx RCV000537388 SCV001811646 uncertain significance not provided 2021-02-08 criteria provided, single submitter clinical testing Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30238986, 22371315, 10458450, 21037542)

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