ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.681C>T (p.His227=)

gnomAD frequency: 0.00004  dbSNP: rs371111330
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001447532 SCV001650598 likely benign Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2024-10-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004540350 SCV004766507 likely benign HSD17B4-related disorder 2022-08-24 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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