Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000530016 | SCV000656579 | likely benign | Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002526728 | SCV003603265 | uncertain significance | Inborn genetic diseases | 2022-01-27 | criteria provided, single submitter | clinical testing | The c.2443G>T (p.V815L) alteration is located in exon 15 (coding exon 15) of the MUSK gene. This alteration results from a G to T substitution at nucleotide position 2443, causing the valine (V) at amino acid position 815 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |