Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001315930 | SCV001506524 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004034379 | SCV004871159 | uncertain significance | Cardiovascular phenotype | 2023-12-13 | criteria provided, single submitter | clinical testing | The c.4979T>C (p.I1660T) alteration is located in exon 30 (coding exon 30) of the FLNC gene. This alteration results from a T to C substitution at nucleotide position 4979, causing the isoleucine (I) at amino acid position 1660 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |