Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001031392 | SCV001194698 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2P | 2019-12-31 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exon(s) 7-10 of the LRSAM1 gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with LRSAM1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |