Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001205257 | SCV001376499 | likely benign | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002561177 | SCV003715715 | uncertain significance | Inborn genetic diseases | 2022-01-04 | criteria provided, single submitter | clinical testing | The c.518G>A (p.R173Q) alteration is located in exon 8 (coding exon 6) of the CC2D2A gene. This alteration results from a G to A substitution at nucleotide position 518, causing the arginine (R) at amino acid position 173 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |