Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mayo Clinic Laboratories, |
RCV002284350 | SCV002573783 | likely pathogenic | not provided | 2021-06-25 | criteria provided, single submitter | clinical testing | PVS1_strong, PM2 |
ARUP Laboratories, |
RCV002284350 | SCV004564350 | pathogenic | not provided | 2023-02-21 | criteria provided, single submitter | clinical testing | The SPTA1 c.1350+1G>C variant, to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 1705976). This variant is also absent from the Genome Aggregation Database, indicating it is not a common polymorphism. This variant disrupts the canonical splice donor site of intron 10, which is likely to negatively impact gene function. Based on available information, this variant is considered to be pathogenic. |