Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000649124 | SCV000770949 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002440344 | SCV002747766 | uncertain significance | Cardiovascular phenotype | 2020-03-24 | criteria provided, single submitter | clinical testing | The c.2736C>T (p.G912G) alteration is located in exon 18 (coding exon 18) of the FLNC gene. This alteration consists of a C to T substitution at nucleotide position 2736. This nucleotide substitution does not change the amino acid at codon 912. However, this change occurs in the last nucleotide of Exon 18 (c.2642_2811) which makes it likely to have some effect on normal mRNA splicing. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |