Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomic Medicine, |
RCV000201793 | SCV003924316 | pathogenic | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome | 2023-05-08 | criteria provided, single submitter | research | |
Center for Genomic Medicine, |
RCV003984821 | SCV004801231 | pathogenic | Autosomal dominant nonsyndromic hearing loss 1 | 2024-03-14 | criteria provided, single submitter | research | |
Department Of Translational Genomics |
RCV000162177 | SCV000196463 | likely pathogenic | Epilepsy; Global developmental delay; Failure to thrive; Microcephaly | 2014-12-01 | no assertion criteria provided | research | |
OMIM | RCV000201793 | SCV000256540 | pathogenic | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome | 2015-02-01 | no assertion criteria provided | literature only |