Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000727730 | SCV000855088 | uncertain significance | not provided | 2018-01-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000727730 | SCV001997510 | uncertain significance | not provided | 2020-01-06 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Located in the A-band of the titin protein, where the majority of pathogenic truncating variants have been reported; Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function |