Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000821429 | SCV000962184 | benign | Tuberous sclerosis 2 | 2023-10-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002332708 | SCV002638841 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-11-22 | criteria provided, single submitter | clinical testing | The c.4462A>G (p.N1488D) alteration is located in exon 34 (coding exon 33) of the TSC2 gene. This alteration results from a A to G substitution at nucleotide position 4462, causing the asparagine (N) at amino acid position 1488 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |