Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040332 | SCV000064023 | uncertain significance | not specified | 2013-04-05 | criteria provided, single submitter | clinical testing | The Asp14847Asn variant in TTN has been identified by our laboratory in 1 Asian infant with DCM and was not identified in large population studies. Computationa l analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen 2, and SIFT) do not provide strong support for or against an impact to the prote in. At this time, additional information is needed to fully assess the clinical significance of the Asp14847Asn variant. |
Labcorp Genetics |
RCV000642909 | SCV000764596 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2018-01-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001588858 | SCV001826723 | likely benign | not provided | 2020-01-23 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001588858 | SCV003825613 | uncertain significance | not provided | 2021-10-14 | criteria provided, single submitter | clinical testing |