Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002963168 | SCV003288223 | likely benign | not provided | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004065070 | SCV003638048 | uncertain significance | not specified | 2021-08-12 | criteria provided, single submitter | clinical testing | The c.2339A>G (p.K780R) alteration is located in exon 10 (coding exon 10) of the DSCAML1 gene. This alteration results from a A to G substitution at nucleotide position 2339, causing the lysine (K) at amino acid position 780 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |