Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001314135 | SCV001504655 | likely benign | Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002543637 | SCV003687744 | uncertain significance | Inborn genetic diseases | 2021-07-26 | criteria provided, single submitter | clinical testing | The c.397A>G (p.I133V) alteration is located in exon 4 (coding exon 4) of the MUSK gene. This alteration results from a A to G substitution at nucleotide position 397, causing the isoleucine (I) at amino acid position 133 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV003132398 | SCV003817079 | uncertain significance | not provided | 2021-03-27 | criteria provided, single submitter | clinical testing |