Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000054735 | SCV002257235 | uncertain significance | not provided | 2021-07-16 | criteria provided, single submitter | clinical testing | This sequence change affects codon 954 of the KL mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the KL protein. This variant is present in population databases (rs387907447, ExAC 0.006%). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 64548). This variant has not been reported in the literature in individuals affected with KL-related conditions. |
Fulgent Genetics, |
RCV002483078 | SCV002796431 | uncertain significance | Tumoral calcinosis, hyperphosphatemic, familial, 3 | 2022-02-10 | criteria provided, single submitter | clinical testing | |
Martin Pollak Laboratory, |
RCV000054735 | SCV000077425 | unknown | not provided | no assertion criteria provided | not provided | Converted during submission to Uncertain significance. |