Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003404639 | SCV004104933 | uncertain significance | FLNC-related disorder | 2023-06-24 | criteria provided, single submitter | clinical testing | The FLNC c.7486G>C variant is predicted to result in the amino acid substitution p.Val2496Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-128496900-G-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Invitae | RCV003778237 | SCV004590085 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2022-11-10 | criteria provided, single submitter | clinical testing |