Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001246304 | SCV001419648 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-12-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001587279 | SCV001825795 | uncertain significance | not provided | 2022-06-28 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |
Fulgent Genetics, |
RCV002491831 | SCV002777351 | uncertain significance | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 | 2021-08-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002568650 | SCV003642461 | uncertain significance | Inborn genetic diseases | 2022-09-06 | criteria provided, single submitter | clinical testing | The c.4911C>G (p.S1637R) alteration is located in exon 28 (coding exon 28) of the FLNC gene. This alteration results from a C to G substitution at nucleotide position 4911, causing the serine (S) at amino acid position 1637 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV001587279 | SCV003831452 | uncertain significance | not provided | 2021-02-16 | criteria provided, single submitter | clinical testing |