Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000494398 | SCV000583227 | likely pathogenic | not provided | 2022-09-21 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation as the last 28 amino acids are replaced with 63 different amino acids, although loss-of-function variants have not been reported downstream of this position in the protein; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26072523, 20206331, 23107375, 34797406) |
Revvity Omics, |
RCV000494398 | SCV002023572 | likely pathogenic | not provided | 2020-12-07 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000000162 | SCV000020305 | pathogenic | Brown-Vialetto-van Laere syndrome 1 | 2010-03-12 | no assertion criteria provided | literature only | |
Gene |
RCV000000162 | SCV000246229 | pathogenic | Brown-Vialetto-van Laere syndrome 1 | 2015-03-17 | no assertion criteria provided | literature only |