Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001430670 | SCV001633414 | likely benign | Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma | 2023-09-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003298734 | SCV004000794 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-03-31 | criteria provided, single submitter | clinical testing | The c.402T>C variant (also known as p.Y134Y), located in coding exon 4 of the SDHB gene, results from a T to C substitution at nucleotide position 402. This nucleotide substitution does not change the at codon 134. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Direct RNA evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |