Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000376423 | SCV000342445 | pathogenic | not provided | 2016-06-15 | criteria provided, single submitter | clinical testing | |
| Blueprint Genetics | RCV000376423 | SCV001832459 | pathogenic | not provided | 2019-11-30 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003987494 | SCV004803414 | pathogenic | 3-M syndrome | 2024-01-15 | criteria provided, single submitter | clinical testing | Variant summary: CUL7 c.4318C>T (p.Arg1440X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 1.2e-05 in 251140 control chromosomes. c.4318C>T has been reported in the literature in multiple individuals affected with Three M Syndrome 1 (e.g., Huber_2009). These data indicate that the variant is likely associated with disease. The following publication has been ascertained in the context of this evaluation (PMID: 19225462). ClinVar contains an entry for this variant (Variation ID: 288359). Based on the evidence outlined above, the variant was classified as pathogenic. |
| Center for Genomic Medicine, |
RCV003988842 | SCV004805396 | pathogenic | 3M syndrome 1 | 2024-03-25 | criteria provided, single submitter | research | |
| Department of Pediatrics, |
RCV003988842 | SCV005045313 | pathogenic | 3M syndrome 1 | 2024-02-01 | no assertion criteria provided | clinical testing |