Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003227679 | SCV003924632 | likely pathogenic | not provided | 2023-05-09 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Published functional studies demonstrate a damaging effect on protein binding (Smith et al., 214; Ganne et al., 2023); This variant is associated with the following publications: (PMID: 26465396, 31585128, 31574570, 28412269, 25374358, 33378215, 34830115, 34169147, 36747013) |
OMIM | RCV000157034 | SCV000206762 | pathogenic | Amyotrophic lateral sclerosis type 22 | 2014-10-22 | no assertion criteria provided | literature only |