Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001311719 | SCV001502009 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | DST: BS2 |
Invitae | RCV001400269 | SCV001602073 | likely benign | Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | 2023-12-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002395661 | SCV002709851 | uncertain significance | Inborn genetic diseases | 2022-01-05 | criteria provided, single submitter | clinical testing | The p.M5061V variant (also known as c.15181A>G), located in coding exon 85 of the DST gene, results from an A to G substitution at nucleotide position 15181. The methionine at codon 5061 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Prevention |
RCV003938623 | SCV004760934 | likely benign | DST-related disorder | 2023-04-26 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |