Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Research Unit for Rare Diseases, |
RCV000023879 | SCV000999258 | pathogenic | Neuronal ceroid lipofuscinosis 4B | criteria provided, single submitter | research | The c.344T>G (p.(L115R)) in exon 4 of DNAJC5 (NM_025219.2) variant was reported by Noskova et al. in 2011 as causative for ausomal dominant adult-onset neuronal ceroid lipofuscinosis (DOI: 10.1016/j.ajhg.2011.07.003). | |
OMIM | RCV000023879 | SCV000045170 | pathogenic | Neuronal ceroid lipofuscinosis 4B | 2013-06-01 | no assertion criteria provided | literature only |