Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000939442 | SCV001085286 | benign | Severe X-linked myotubular myopathy | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003363023 | SCV004071541 | uncertain significance | Inborn genetic diseases | 2023-06-29 | criteria provided, single submitter | clinical testing | The c.230C>T (p.T77M) alteration is located in exon 4 (coding exon 3) of the MTM1 gene. This alteration results from a C to T substitution at nucleotide position 230, causing the threonine (T) at amino acid position 77 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV000939442 | SCV002084508 | likely benign | Severe X-linked myotubular myopathy | 2020-01-31 | no assertion criteria provided | clinical testing |