Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000627635 | SCV000748635 | likely pathogenic | not provided | 2018-04-23 | criteria provided, single submitter | clinical testing | The c.2730_2733delCAAA likely pathogenic variant in the NEK1 gene has been published in association with short-rib polydactyly syndrome type II also known as Majewski Syndrome (Zhang et al., 2017). It is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2730_2733delCAAA variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). In summary, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded. |
Dan Cohn Lab, |
RCV000516122 | SCV000612099 | pathogenic | Short-rib thoracic dysplasia 6 with or without polydactyly | 2017-06-01 | no assertion criteria provided | research | |
University of Washington Center for Mendelian Genomics, |
RCV000516122 | SCV001479758 | likely pathogenic | Short-rib thoracic dysplasia 6 with or without polydactyly | no assertion criteria provided | research |