Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001380457 | SCV001578539 | pathogenic | not provided | 2023-06-09 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1068788). This variant has not been reported in the literature in individuals affected with TCIRG1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu266Glyfs*13) in the TCIRG1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TCIRG1 are known to be pathogenic (PMID: 10888887, 10942435, 11532986, 19448635). |
Baylor Genetics | RCV003462966 | SCV004205793 | pathogenic | Autosomal recessive osteopetrosis 1 | 2023-03-13 | criteria provided, single submitter | clinical testing |