Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000441362 | SCV000520275 | benign | not specified | 2016-10-06 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000587536 | SCV000699362 | benign | not provided | 2016-11-25 | criteria provided, single submitter | clinical testing | Variant summary: The c.1630-18T>C in ADAMTS2 gene is an intronic change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant does not affect normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in the control population dataset of ExAC at frequency of 0.261 (31732/121274 chrs tested), including 4523 homozygotes. The observed frequency exceeds the maximum expected allele frequency for a pathogenic variant in this gene (0.0029), suggesting that it is a benign polymorphism. Taking together, based on the prevalence in general population the variant was classified as Benign. |
Genome- |
RCV000604542 | SCV001762702 | benign | Ehlers-Danlos syndrome, dermatosparaxis type | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000604542 | SCV002494961 | benign | Ehlers-Danlos syndrome, dermatosparaxis type | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000604542 | SCV000734397 | benign | Ehlers-Danlos syndrome, dermatosparaxis type | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000604542 | SCV000745661 | benign | Ehlers-Danlos syndrome, dermatosparaxis type | 2014-02-04 | no assertion criteria provided | clinical testing |