Total submissions: 3
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, |
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, |
RCV001273799 | SCV001457299 | uncertain significance | Bifunctional peroxisomal enzyme deficiency | 2020-03-10 | no assertion criteria provided | clinical testing |