Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Clinical Services Laboratory, |
RCV001161100 | SCV001322944 | uncertain significance | Distal spinal muscular atrophy | 2017-06-16 | 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Illumina Clinical Services Laboratory, |
RCV000009788 | SCV001322945 | uncertain significance | Distal hereditary motor neuronopathy type 5 | 2017-06-16 | 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Illumina Clinical Services Laboratory, |
RCV000009787 | SCV001322946 | uncertain significance | Charcot-Marie-Tooth disease type 2D | 2017-06-16 | 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Institute of Human Genetics, |
RCV000009787 | SCV001439953 | pathogenic | Charcot-Marie-Tooth disease type 2D | 2019-01-01 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000009787 | SCV000030008 | pathogenic | Charcot-Marie-Tooth disease type 2D | 2014-11-01 | no assertion criteria provided | literature only | |
Inherited Neuropathy Consortium | RCV000790257 | SCV000929657 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only | ||
OMIM | RCV000009788 | SCV001438348 | pathogenic | Distal hereditary motor neuronopathy type 5 | 2014-11-01 | no assertion criteria provided | literature only |