Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000537141 | SCV000651043 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-12-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001560414 | SCV001782826 | likely benign | not provided | 2021-01-19 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge |
Ce |
RCV001560414 | SCV001962097 | uncertain significance | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002330946 | SCV002633661 | uncertain significance | Cardiovascular phenotype | 2023-04-25 | criteria provided, single submitter | clinical testing | The p.A1588G variant (also known as c.4763C>G), located in coding exon 28 of the FLNC gene, results from a C to G substitution at nucleotide position 4763. The alanine at codon 1588 is replaced by glycine, an amino acid with similar properties. This alteration has been reported in an autism spectrum disease cohort that underwent exome sequencing (Ji X et al. Proc Natl Acad Sci U S A, 2016 Dec;113:15054-15059). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV001560414 | SCV003833079 | uncertain significance | not provided | 2019-03-07 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001560414 | SCV001928100 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001560414 | SCV001976237 | uncertain significance | not provided | no assertion criteria provided | clinical testing |