Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV002308075 | SCV002601764 | likely pathogenic | Bardet-Biedl syndrome 13; Meckel syndrome, type 1; Joubert syndrome 28 | 2022-03-05 | criteria provided, single submitter | clinical testing | NM_017777.3(MKS1):c.1032_1035delAAGC(S345Qfs*9) is expected to be pathogenic in the context of MKS1-related disorders. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in MKS1, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening. |