Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003404974 | SCV004122760 | likely benign | not specified | 2023-10-11 | criteria provided, single submitter | clinical testing | Variant summary: MUSK c.207-16T>C alters a non-conserved nucleotide located at a position not widely known to affect splicing. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 239174 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.207-16T>C in individuals affected with MUSK-Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely benign. |
Invitae | RCV003778353 | SCV004596736 | likely benign | Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 | 2023-06-24 | criteria provided, single submitter | clinical testing |