Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000800296 | SCV000940001 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-03-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001592985 | SCV001814878 | uncertain significance | not provided | 2019-10-10 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID#646079; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect |
Ce |
RCV001592985 | SCV002821850 | uncertain significance | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004619417 | SCV005115313 | uncertain significance | Cardiovascular phenotype | 2024-06-10 | criteria provided, single submitter | clinical testing | The c.1898C>T (p.T633M) alteration is located in exon 12 (coding exon 12) of the FLNC gene. This alteration results from a C to T substitution at nucleotide position 1898, causing the threonine (T) at amino acid position 633 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |