Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001866043 | SCV002267543 | benign | Kabuki syndrome | 2024-07-12 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV005005971 | SCV005636412 | likely benign | Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | 2024-06-20 | criteria provided, single submitter | clinical testing | |
Laboratory of Diagnostic Genome Analysis, |
RCV001572922 | SCV001798026 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001572922 | SCV001964400 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Prevention |
RCV004536206 | SCV004732814 | likely benign | KMT2D-related disorder | 2023-06-07 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |