Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000352027 | SCV000337166 | pathogenic | not provided | 2015-11-10 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000352027 | SCV001145945 | pathogenic | not provided | 2018-10-12 | criteria provided, single submitter | clinical testing | The variant creates a premature nonsense codon, and is therefore predicted to significantly disrupt the protein structure. Found in at least one symptomatic patient, and found in general population data that is consistent with pathogenicity. Moderate co-segregation with disease. However, available data are from a single family and lack unaffected family members. |
OMIM | RCV000787308 | SCV000926245 | pathogenic | Arthrogryposis multiplex congenita 3, myogenic type | 2014-05-01 | no assertion criteria provided | literature only |