ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.501A>C (p.Ala167=)

gnomAD frequency: 0.00001  dbSNP: rs776640310
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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) RCV000593808 SCV000707783 uncertain significance not provided 2017-12-13 criteria provided, single submitter clinical testing
Invitae RCV001079250 SCV001063589 likely benign Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2024-01-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000593808 SCV004698766 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing HSD17B4: BP4, BP7

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