Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000878003 | SCV001020840 | benign | Acroosteolysis-keloid-like lesions-premature aging syndrome; Basal ganglia calcification, idiopathic, 4; Infantile myofibromatosis; Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000987618 | SCV001137006 | likely benign | Myofibromatosis, infantile, 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001573574 | SCV001898757 | benign | not provided | 2021-06-07 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 29084058, 26599395, 24796542) |
Ambry Genetics | RCV002540033 | SCV003737477 | likely benign | Inborn genetic diseases | 2021-08-12 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Laboratory of Diagnostic Genome Analysis, |
RCV001573574 | SCV001799647 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001573574 | SCV001808000 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV001573574 | SCV001920433 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001573574 | SCV001976093 | likely benign | not provided | no assertion criteria provided | clinical testing |