Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV002307858 | SCV002604318 | likely pathogenic | Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset | 2022-02-28 | criteria provided, single submitter | clinical testing | NM_003494.3(DYSF):c.428delC(P143Rfs*8) is expected to be pathogenic in the context of dysferlinopathy. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in DYSF, 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. |
Baylor Genetics | RCV003471326 | SCV004192282 | likely pathogenic | Miyoshi muscular dystrophy 1 | 2022-10-18 | criteria provided, single submitter | clinical testing |