Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001779768 | SCV002015564 | uncertain significance | not provided | 2021-11-05 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not present in the coding portion of the TTN primary transcripts (NM_133378.4 and NM_001256850.1); Located in the unique last exon of the shortest transcript of the TTN gene (novex-3, NM_133379.3 ), resulting a nonsense variant in this isoform ((p.(Arg4705*) (CGA>TGA): c.14113 C>T in exon 46 of novex-3 isoform); The truncating variants in the unique last exon of the novex-3 isoform are not known to be significantly associated with TTN-related disease (Stenson et al., 2014) |
Fulgent Genetics, |
RCV002506821 | SCV002812206 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 | 2021-07-27 | criteria provided, single submitter | clinical testing |