Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000651212 | SCV000773063 | likely benign | Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 | 2023-08-04 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002485470 | SCV002785498 | uncertain significance | Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 | 2021-07-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002530539 | SCV003543649 | uncertain significance | Inborn genetic diseases | 2021-08-06 | criteria provided, single submitter | clinical testing | The c.4861G>A (p.V1621I) alteration is located in exon 40 (coding exon 40) of the CACNA1S gene. This alteration results from a G to A substitution at nucleotide position 4861, causing the valine (V) at amino acid position 1621 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |