Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001223768 | SCV001395930 | likely benign | Charcot-Marie-Tooth disease type 4 | 2023-05-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002563648 | SCV003724914 | uncertain significance | Inborn genetic diseases | 2022-10-25 | criteria provided, single submitter | clinical testing | The c.1943G>A (p.R648Q) alteration is located in exon 11 (coding exon 11) of the SH3TC2 gene. This alteration results from a G to A substitution at nucleotide position 1943, causing the arginine (R) at amino acid position 648 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |