ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.505T>C (p.Leu169=)

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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 RCV003043605 SCV003345284 likely benign Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2023-09-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003427548 SCV004159255 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing HSD17B4: PM2:Supporting, BP4, BP7

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