Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002472954 | SCV002770221 | likely pathogenic | not provided | 2022-06-20 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation, as the last 24 amino acids are replaced with 7 different amino acids, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 23958762) |
OMIM | RCV000157635 | SCV000207442 | pathogenic | Amelogenesis imperfecta type 1A | 2013-10-01 | no assertion criteria provided | literature only |