Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000686554 | SCV000814077 | benign | Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002477528 | SCV002775100 | uncertain significance | Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 | 2022-01-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002547103 | SCV003741570 | uncertain significance | Inborn genetic diseases | 2022-10-25 | criteria provided, single submitter | clinical testing | The c.3406G>A (p.G1136S) alteration is located in exon 26 (coding exon 26) of the CACNA1S gene. This alteration results from a G to A substitution at nucleotide position 3406, causing the glycine (G) at amino acid position 1136 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |