Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040948 | SCV000064639 | uncertain significance | not specified | 2012-06-06 | criteria provided, single submitter | clinical testing | The Pro3238Leu variant in TTN has not been reported in the literature nor previo usly identified by our laboratory. This variant has not been identified in 2 ver y large and broad populations (European and African American) screened by the NH LBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). Computational a nalyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Pro3238Leu variant may impact the protein, though thi s information is not predictive enough to determine pathogenicity. Although the low frequency and computational predictions of this variant are consistent with a possible disease causing role, additional information is needed to fully asses s the clinical significance of the Pro3238Leu variant. |
Genetic Services Laboratory, |
RCV000040948 | SCV000249293 | uncertain significance | not specified | 2015-07-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000536899 | SCV000643970 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-02-24 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002477126 | SCV002792695 | 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 | 2021-10-08 | criteria provided, single submitter | clinical testing |