Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000988275 | SCV000641560 | benign | Tuberous sclerosis 1 | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000567937 | SCV000675431 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-06-24 | criteria provided, single submitter | clinical testing | The p.Y761H variant (also known as c.2281T>C), located in coding exon 16 of the TSC1 gene, results from a T to C substitution at nucleotide position 2281. The tyrosine at codon 761 is replaced by histidine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Mendelics | RCV000988275 | SCV001137932 | uncertain significance | Tuberous sclerosis 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000988275 | SCV002040055 | likely benign | Tuberous sclerosis 1 | 2021-11-07 | criteria provided, single submitter | clinical testing |