Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000555750 | SCV000656558 | likely benign | Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002526727 | SCV003711589 | uncertain significance | Inborn genetic diseases | 2022-04-25 | criteria provided, single submitter | clinical testing | The c.1025C>T (p.A342V) alteration is located in exon 9 (coding exon 9) of the MUSK gene. This alteration results from a C to T substitution at nucleotide position 1025, causing the alanine (A) at amino acid position 342 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV003129917 | SCV003817129 | uncertain significance | not provided | 2019-01-14 | criteria provided, single submitter | clinical testing |