Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomics, |
RCV000767945 | SCV000898631 | uncertain significance | Ehlers-Danlos syndrome, classic type | 2018-03-27 | criteria provided, single submitter | clinical testing | COL5A2 NM_000393.4 exon 43 p.Gly990= (c.2970G>C): This variant has not been reported in the literature but is present in 18/24258 Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Invitae | RCV002061036 | SCV001652263 | likely benign | Ehlers-Danlos syndrome, classic type, 1 | 2022-09-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001585691 | SCV001812793 | likely benign | not provided | 2020-08-12 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV002061036 | SCV002496074 | uncertain significance | Ehlers-Danlos syndrome, classic type, 1 | 2021-02-16 | criteria provided, single submitter | clinical testing | COL5A2 NM_000393.4 exon 43 p.Gly990= (c.2970G>C): This variant has not been reported in the literature but is present in 18/24258 Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Center for Genomics, |
RCV003227851 | SCV003924262 | uncertain significance | Ehlers-Danlos syndrome, classic type, 2 | 2021-03-30 | criteria provided, single submitter | clinical testing | COL5A2 NM_000393.4 exon 43 p.Gly990= (c.2970G>C): This variant has not been reported in the literature but is present in 18/24258 Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
ARUP Laboratories, |
RCV003227851 | SCV004562507 | likely benign | Ehlers-Danlos syndrome, classic type, 2 | 2023-08-31 | criteria provided, single submitter | clinical testing |