ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.822G>A (p.Lys274=)

gnomAD frequency: 0.00029  dbSNP: rs141216594
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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 RCV001502415 SCV001707249 likely benign Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2024-03-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004540461 SCV004776823 likely benign HSD17B4-related disorder 2021-05-11 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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