ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.1768-6_1768-4del

dbSNP: rs755128532
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729868 SCV000857561 uncertain significance not provided 2017-10-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001447459 SCV001650524 likely benign Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2023-05-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535827 SCV004713714 likely benign HSD17B4-related disorder 2022-02-08 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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