Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV005347607 | SCV006025276 | uncertain significance | not specified | 2025-03-07 | criteria provided, single submitter | clinical testing | The c.286C>T (p.R96C) alteration is located in exon 3 (coding exon 3) of the LGR5 gene. This alteration results from a C to T substitution at nucleotide position 286, causing the arginine (R) at amino acid position 96 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |