Total submissions: 14
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000125613 | SCV000169070 | benign | not specified | 2014-06-05 | 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. |
Prevention |
RCV000125613 | SCV000313782 | benign | not specified | criteria provided, single submitter | clinical testing | ||
EGL Genetic Diagnostics, |
RCV000125613 | SCV000340917 | benign | not specified | 2016-05-02 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000357119 | SCV000376194 | benign | Metatrophic dysplasia | 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Illumina Clinical Services Laboratory, |
RCV000259885 | SCV000376195 | benign | Distal spinal muscular atrophy, congenital nonprogressive | 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Illumina Clinical Services Laboratory, |
RCV000317460 | SCV000376196 | benign | Brachyrachia (short spine dysplasia) | 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Illumina Clinical Services Laboratory, |
RCV000388208 | SCV000376197 | benign | Scapuloperoneal spinal muscular atrophy | 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Illumina Clinical Services Laboratory, |
RCV000277523 | SCV000376198 | benign | Spondylometaphyseal dysplasia, Kozlowski type | 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Illumina Clinical Services Laboratory, |
RCV001079400 | SCV000376199 | benign | Charcot-Marie-Tooth disease axonal type 2C | 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Invitae | RCV001079400 | SCV000560184 | benign | Charcot-Marie-Tooth disease axonal type 2C | 2019-12-31 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001283636 | SCV000605451 | benign | none provided | 2020-08-28 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000713884 | SCV000844524 | benign | not provided | 2017-09-28 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001172934 | SCV001336009 | benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
OMIM | RCV000005297 | SCV000025475 | association | Sodium serum level quantitative trait locus 1 | 2009-08-18 | no assertion criteria provided | literature only |