Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000875636 | SCV001018089 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-12-12 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV003736933 | SCV004563311 | uncertain significance | not provided | 2023-09-06 | criteria provided, single submitter | clinical testing | The FLNC c.5842+7C>T variant (rs370905549), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 705377). This variant is found in the non-Finnish European population with an allele frequency of 0.015% (19/128,612 alleles) in the Genome Aggregation Database. This is an intronic variant in a weakly conserved nucleotide, but computational analyses (Alamut Visual Plus v.1.5.1) predict that this variant may impact splicing by creating a novel cryptic donor splice site. Due to limited information, the clinical significance of this variant is uncertain at this time. |