Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomic Medicine, |
RCV003228209 | SCV003924321 | pathogenic | Congenital myopathy 2c, severe infantile, autosomal dominant | 2023-05-08 | criteria provided, single submitter | research |