Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004508475 | SCV005020301 | uncertain significance | Cardiovascular phenotype | 2023-10-17 | criteria provided, single submitter | clinical testing | The c.497-3C>T intronic variant results from a C to T substitution 3 nucleotides upstream from coding exon 3 in the SNTA1 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |