Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155418 | SCV000205108 | uncertain significance | not specified | 2012-10-02 | criteria provided, single submitter | clinical testing | The Asp30198Tyr variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. Computational analyses (biochemical amino ac id properties, conservation, AlignGVGD, and PolyPhen2) suggest that the variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. Additional information is needed to fully assess the cli nical significance of this variant. |
Ambry Genetics | RCV000250572 | SCV000318278 | uncertain significance | Cardiovascular phenotype | 2013-02-07 | criteria provided, single submitter | clinical testing | There is insufficient or conflicting evidence for classification of this alteration. |