Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001374167 | SCV001570949 | uncertain significance | Congenital muscular hypertrophy-cerebral syndrome | 2020-03-06 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exon 19 of the SMC1A gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with SMC1A-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |