ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.1971C>T (p.Gly657=)

dbSNP: rs776519991
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001564479 SCV001787654 likely benign not provided 2020-01-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002573187 SCV003448338 likely benign Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2024-10-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004542012 SCV004768446 likely benign HSD17B4-related disorder 2022-01-04 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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