Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV005328792 | SCV005986096 | uncertain significance | Inborn genetic diseases | 2025-02-26 | criteria provided, single submitter | clinical testing | The c.2048A>G (p.K683R) alteration is located in exon 14 (coding exon 14) of the DCLRE1C gene. This alteration results from a A to G substitution at nucleotide position 2048, causing the lysine (K) at amino acid position 683 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |