Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040287 | SCV000063978 | uncertain significance | not specified | 2012-02-06 | criteria provided, single submitter | clinical testing | The Met13395Val variant (TTN) has not been reported in the literature nor previo usly identified by our laboratory. Computational analyses (biochemical amino aci d properties, conservation, AlignGVGD, and SIFT) do not provide strong support f or or against pathogenicity. Additional information is needed to fully assess th e clinical significance of the Met13395Val variant. |
Gene |
RCV001711128 | SCV000237223 | likely benign | not provided | 2018-05-09 | criteria provided, single submitter | clinical testing |