Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000153529 | SCV000203057 | uncertain significance | not provided | 2018-08-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001088448 | SCV000836728 | likely benign | Myofibrillar myopathy 3 | 2023-08-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002516082 | SCV003706981 | uncertain significance | Inborn genetic diseases | 2022-06-30 | criteria provided, single submitter | clinical testing | The c.1439A>G (p.E480G) alteration is located in exon 10 (coding exon 9) of the MYOT gene. This alteration results from a A to G substitution at nucleotide position 1439, causing the glutamic acid (E) at amino acid position 480 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV001088448 | SCV003810964 | uncertain significance | Myofibrillar myopathy 3 | 2023-09-14 | criteria provided, single submitter | clinical testing |