Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002638280 | SCV003520351 | benign | not provided | 2022-03-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004072040 | SCV003869994 | uncertain significance | not specified | 2023-02-22 | criteria provided, single submitter | clinical testing | The c.922T>C (p.W308R) alteration is located in exon 6 (coding exon 6) of the TBC1D8B gene. This alteration results from a T to C substitution at nucleotide position 922, causing the tryptophan (W) at amino acid position 308 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |