Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001054930 | SCV001219289 | likely benign | Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 | 2023-12-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004031737 | SCV004935681 | uncertain significance | Inborn genetic diseases | 2023-10-17 | criteria provided, single submitter | clinical testing | The c.1862C>T (p.A621V) alteration is located in exon 14 (coding exon 14) of the MUSK gene. This alteration results from a C to T substitution at nucleotide position 1862, causing the alanine (A) at amino acid position 621 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |