Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV003132715 | SCV003817111 | uncertain significance | not provided | 2019-10-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003269545 | SCV003975459 | uncertain significance | Inborn genetic diseases | 2023-04-08 | criteria provided, single submitter | clinical testing | The c.2003G>A (p.R668H) 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 2003, causing the arginine (R) at amino acid position 668 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |