Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001231992 | SCV001404533 | likely benign | Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 | 2024-10-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002563213 | SCV003684662 | uncertain significance | Inborn genetic diseases | 2022-02-26 | criteria provided, single submitter | clinical testing | The c.9730G>C (p.G3244R) alteration is located in exon 60 (coding exon 60) of the RELN gene. This alteration results from a G to C substitution at nucleotide position 9730, causing the glycine (G) at amino acid position 3244 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |