Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002129376 | SCV002402038 | likely benign | not provided | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004046295 | SCV003566380 | uncertain significance | not specified | 2022-05-27 | criteria provided, single submitter | clinical testing | The c.890G>T (p.R297L) alteration is located in exon 6 (coding exon 6) of the LIPI gene. This alteration results from a G to T substitution at nucleotide position 890, causing the arginine (R) at amino acid position 297 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |