Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000815661 | SCV001143238 | likely pathogenic | not provided | 2018-09-25 | criteria provided, single submitter | clinical testing | The variant results in a shift of the reading frame, and is therefore predicted to significantly disrupt the protein structure. Not found in the total gnomAD dataset, and the data is high quality (0/276122 chr). |
Division of Nephrology, |
RCV000859981 | SCV000920873 | likely pathogenic | Autosomal recessive Alport syndrome | no assertion criteria provided | provider interpretation | The c.3861delinsCTC variant in COL4A4 was observed along with another COL4A4 variant, c.4708G>A, in a female patient with clinical and renal biopsy findings consistent with Alport Syndrome. This patient was interpreted as being compound heterozygous for variants causing autosomal recessive Alport Syndrome. This patient had a relatively mild phenotype. This case manuscript is under revision for publication. |