ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.1875C>G (p.Thr625=)

gnomAD frequency: 0.00001  dbSNP: rs745478996
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000983424 SCV001131446 likely benign Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2023-10-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001449840 SCV001653142 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Thr650Thr in exon 23 of HSD17B4: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 2/66660 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs745478996).
Natera, Inc. RCV001273799 SCV001457299 uncertain significance Bifunctional peroxisomal enzyme deficiency 2020-03-10 no assertion criteria provided clinical testing

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