Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001242147 | SCV001415215 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-11-16 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002491809 | SCV002789561 | uncertain significance | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 | 2022-05-16 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003145469 | SCV003833206 | uncertain significance | not provided | 2019-10-22 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV003145469 | SCV004564304 | uncertain significance | not provided | 2023-01-03 | criteria provided, single submitter | clinical testing | The FLNC c.7228C>T; p.Arg2410Cys variant (rs750686083) is reported in the literature in an individual affected with hypertrophic cardiomyopathy (Ader 2018). This variant is also reported in ClinVar (Variation ID: 967275), but is only observed on six alleles in the Genome Aggregation Database, indicating it is not a common polymorphism. The arginine at codon 2410 is highly conserved, and computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.641). Due to limited information, the clinical significance of this variant is uncertain at this time. References: Ader F et al. (Genotype-phenotype correlations of pathogenic variants in the FLNC gene). Med Sci (Paris). 2018 Nov;34 Hors serie no2:39-41. French. PMID: 30418145. |