Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001088414 | SCV000654634 | benign | Charcot-Marie-Tooth disease type 2R | 2023-12-20 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000756804 | SCV000884720 | uncertain significance | not provided | 2017-11-17 | criteria provided, single submitter | clinical testing | The c.996C>T variant (rs116558260) has not been reported in the medical literature, and is not listed in gene-specific variant databases. The c.996C>T variant is also listed in the Genome Aggregation Database (gnomAD) browser with an allele frequency of 0.18% in the African population (identified in 43 out of 23,970 chromosomes). The cytosine at nucleotide 996 is weakly conserved, but computational analyses predict that this variant creates a cryptic splice donor site (Alamut software v2.10.0). Therefore, based on the available information, the clinical significance of the c.996C>T variant cannot be determined with certainty. |
Gene |
RCV000756804 | SCV001986968 | uncertain significance | not provided | 2019-06-13 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown. |