Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001001616 | SCV001159067 | uncertain significance | not specified | 2018-12-19 | criteria provided, single submitter | clinical testing | The SLC26A4 c.886A>G; p.Ile296Val variant (rs761613436), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found on a single chromosome in the Genome Aggregation Database, indicating it is not a common polymorphism. The isoleucine at codon 296 is moderately conserved, but computational analyses (SIFT: damaging, PolyPhen-2: benign) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Ile296Val variant is uncertain at this time. |
Natera, |
RCV001827155 | SCV002079980 | uncertain significance | Pendred syndrome | 2020-07-11 | no assertion criteria provided | clinical testing |