Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000653229 | SCV000775105 | likely benign | Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 | 2024-01-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002532005 | SCV003600968 | uncertain significance | Inborn genetic diseases | 2021-11-05 | criteria provided, single submitter | clinical testing | The c.2200G>A (p.G734S) alteration is located in exon 15 (coding exon 15) of the MUSK gene. This alteration results from a G to A substitution at nucleotide position 2200, causing the glycine (G) at amino acid position 734 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV003133467 | SCV003811492 | uncertain significance | not provided | 2019-11-15 | criteria provided, single submitter | clinical testing |