Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001414429 | SCV001616566 | likely benign | DK1-congenital disorder of glycosylation | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001773747 | SCV001993644 | uncertain significance | not provided | 2019-05-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004038114 | SCV005026259 | uncertain significance | Cardiovascular phenotype | 2023-10-23 | criteria provided, single submitter | clinical testing | The p.V127A variant (also known as c.380T>C), located in coding exon 1 of the DOLK gene, results from a T to C substitution at nucleotide position 380. The valine at codon 127 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. 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. |