Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000806965 | SCV000946989 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2022-11-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004028268 | SCV004070161 | uncertain significance | Cardiovascular phenotype | 2023-06-28 | criteria provided, single submitter | clinical testing | The c.2287C>T (p.H763Y) alteration is located in exon 15 (coding exon 15) of the FLNC gene. This alteration results from a C to T substitution at nucleotide position 2287, causing the histidine (H) at amino acid position 763 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |