Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Pathology and Clinical Laboratory Medicine, |
RCV001261622 | SCV001438908 | likely pathogenic | Pyknodysostosis | criteria provided, single submitter | clinical testing | ||
Baylor Genetics | RCV001261622 | SCV001521401 | likely pathogenic | Pyknodysostosis | 2019-12-06 | criteria provided, single submitter | clinical testing | This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV002537623 | SCV003472542 | pathogenic | not provided | 2022-06-09 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. 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: 982106). This variant has been observed in individuals with clinical features of pycnodysostosis (PMID: 29620724, 33963797). It is commonly reported in individuals of Saudi Arabia ancestry (PMID: 33963797). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 3 of the CTSK gene. It does not directly change the encoded amino acid sequence of the CTSK protein. |
Genome- |
RCV001261622 | SCV004049732 | likely pathogenic | Pyknodysostosis | 2023-04-11 | criteria provided, single submitter | clinical testing |