Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000420242 | SCV000523270 | uncertain significance | not provided | 2017-06-21 | criteria provided, single submitter | clinical testing | The c.783-6 T>C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.783-6 T>C variant is observed in 106/64806 (0.16%) alleles from individuals of European background, including 1 homozygous individual in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.783-6 T>C substitution occurs at a position that is conserved across species. In-silico splice prediction models are inconsistent in their predictions as to whether or not c.783-6 T>C results in abnormal gene splicing, and in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
Invitae | RCV001087843 | SCV000646848 | benign | Familial acute necrotizing encephalopathy | 2023-12-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000420242 | SCV004148960 | benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | RANBP2: BS1, BS2 |
Laboratory of Diagnostic Genome Analysis, |
RCV000420242 | SCV001798957 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001702774 | SCV001931684 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000420242 | SCV001967482 | likely benign | not provided | no assertion criteria provided | clinical testing |