ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.1398T>G (p.Ser466=)

gnomAD frequency: 0.00010  dbSNP: rs746787900
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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 RCV000914608 SCV001059790 likely benign Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2025-01-24 criteria provided, single submitter clinical testing
GeneDx RCV001788377 SCV002031029 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing

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