Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004637522 | SCV005136853 | uncertain significance | not specified | 2024-04-17 | criteria provided, single submitter | clinical testing | The c.101C>G (p.T34R) alteration is located in exon 2 (coding exon 2) of the LRIF1 gene. This alteration results from a C to G substitution at nucleotide position 101, causing the threonine (T) at amino acid position 34 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |