Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003891827 | SCV000301805 | benign | CACNA1S-related disorder | 2020-03-30 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Illumina Laboratory Services, |
RCV000349341 | SCV000353085 | benign | Hypokalemic periodic paralysis, type 1 | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Gene |
RCV000248889 | SCV000521173 | benign | not specified | 2016-05-18 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV001083987 | SCV000653650 | benign | Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000711138 | SCV000841466 | benign | not provided | 2018-05-30 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000711138 | SCV002047948 | benign | not provided | 2023-08-21 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000711138 | SCV002544351 | benign | not provided | 2024-07-01 | criteria provided, single submitter | clinical testing | CACNA1S: BS1, BS2 |
Genome- |
RCV003454730 | SCV004178991 | likely benign | Malignant hyperthermia, susceptibility to, 5 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003454731 | SCV004178993 | likely benign | Thyrotoxic periodic paralysis, susceptibility to, 1 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003458364 | SCV004178994 | likely benign | Congenital myopathy 18 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000349341 | SCV004178995 | likely benign | Hypokalemic periodic paralysis, type 1 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV003454730 | SCV004360379 | likely benign | Malignant hyperthermia, susceptibility to, 5 | 2018-03-05 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003454730 | SCV004830120 | likely benign | Malignant hyperthermia, susceptibility to, 5 | 2024-02-05 | criteria provided, single submitter | clinical testing |