Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001502684 | SCV001707519 | likely benign | Alstrom syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002414218 | SCV002672223 | uncertain significance | Cardiovascular phenotype | 2019-08-14 | criteria provided, single submitter | clinical testing | The c.10217-4G>A intronic variant results from a G to A substitution 4 nucleotides upstream from coding exon 15 in the ALMS1 gene. This nucleotide position is poorly 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. |