Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000727074 | SCV000516053 | likely benign | not provided | 2020-04-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001087300 | SCV000557611 | likely benign | Progressive myoclonic epilepsy | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000727074 | SCV000705397 | uncertain significance | not provided | 2017-01-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002328931 | SCV002628654 | uncertain significance | Inborn genetic diseases | 2018-11-16 | criteria provided, single submitter | clinical testing | The c.424-4G>A intronic variant results from a G to A substitution 4 nucleotides upstream from coding exon 4 in the SCARB2 gene. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |