Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000734721 | SCV000862885 | uncertain significance | not provided | 2018-08-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001312383 | SCV001502835 | likely benign | Bifunctional peroxisomal enzyme deficiency; Perrault syndrome | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000734721 | SCV001826351 | likely benign | not provided | 2020-11-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002535390 | SCV003676791 | uncertain significance | Inborn genetic diseases | 2021-07-14 | criteria provided, single submitter | clinical testing | The c.1278A>T (p.E426D) alteration is located in exon 15 (coding exon 15) of the HSD17B4 gene. This alteration results from a A to T substitution at nucleotide position 1278, causing the glutamic acid (E) at amino acid position 426 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |