Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Preventiongenetics, |
RCV000249332 | SCV000301802 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000305536 | SCV000353107 | benign | Hypokalemic periodic paralysis, type 1 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign. |
Athena Diagnostics Inc | RCV000576506 | SCV000677244 | benign | Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 | 2017-06-20 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000586319 | SCV000695294 | benign | not provided | 2016-02-11 | criteria provided, single submitter | clinical testing | Variant summary: c.1551T>C affects a non-conserved nucleotide, resulting in a synonymous change. Mutation taster predicts this variant to be benign. 4/5 in silico tools via Alamut predict no change on RNA splicing site and ESEfinder predicts a gain of binding motif for splicing enhancer. This variant was found in 70806/121258 control chromosomes (with 22620 homozygotes) from ExAC at a frequency of 0.5839285, which significantly exceeds the maximal expected frequency of a pathogenic allele (0.0000013), suggesting this variant is a benign polymorphism. Taken together, considering the high frequency in controls and lack of predicted effect on splicing, this variant was classified as Benign. |
Invitae | RCV000576506 | SCV001720971 | benign | Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000305536 | SCV001775948 | benign | Hypokalemic periodic paralysis, type 1 | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000586319 | SCV001839892 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 11940049) |
Color Diagnostics, |
RCV003517152 | SCV004360385 | benign | Malignant hyperthermia, susceptibility to, 5 | 2019-03-28 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000249332 | SCV001740249 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000249332 | SCV001955106 | benign | not specified | no assertion criteria provided | clinical testing |