Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039933 | SCV000063624 | uncertain significance | not specified | 2011-10-06 | criteria provided, single submitter | clinical testing | The Asp5411Asn variant (TTN) has not been previously reported or previously iden tified by our laboratory. Aspartic acid (Asp) at position 5411 is conserved in m ammals, chicken, and fish, indicating that a change may not be tolerated. Howeve r, two computational models (AlignGVGD and SIFT) predict this variant to be beni gn (their accuracy is unknown). In summary, additional data is needed to determi ne the clinical significance of this variant. |
Gene |
RCV001703895 | SCV000238272 | likely benign | not provided | 2020-11-23 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000643024 | SCV000764711 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-12-18 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001703895 | SCV003823614 | uncertain significance | not provided | 2023-01-17 | criteria provided, single submitter | clinical testing |