Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000251433 | SCV000310284 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Labcorp Genetics |
RCV000541900 | SCV000656196 | likely benign | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001764233 | SCV002008436 | uncertain significance | not provided | 2021-08-04 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Internal segregation studies show this variant has been inherited from reportedly unaffected parents; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in ClinVar (ClinVar Variant ID# 259348; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 26582918) |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV002252066 | SCV002523441 | likely benign | See cases | 2020-01-03 | criteria provided, single submitter | clinical testing | ACMG classification criteria: BS1, BP4 |
Ce |
RCV001764233 | SCV004159754 | likely benign | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | COL12A1: BP4 |