Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Broad Center for Mendelian Genomics, |
RCV001004904 | SCV001164404 | uncertain significance | Hereditary spherocytosis type 2 | 2018-12-03 | criteria provided, single submitter | research | The heterozygous p.Leu2025Arg variant in SPTB was identified by our study in one individual with spherocytosis. This variant was absent from large population studies. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Leu2025Arg variant is uncertain. ACMG/AMP Criteria applied: PM2, PP3 (Richards 2015). |
Revvity Omics, |
RCV003129752 | SCV003817195 | likely pathogenic | not provided | 2023-01-26 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000013691 | SCV000033938 | pathogenic | ANEMIA, PERINATAL HEMOLYTIC, FATAL OR NEAR-FATAL | 1995-03-01 | no assertion criteria provided | literature only |