Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000236548 | SCV000292688 | pathogenic | not provided | 2022-04-13 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate a damaging effect with this variant resulting in impaired riboflavin transport activity (Console et al., 2021); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23243084, 34428344, 33468503, 32855765) |
OMIM | RCV000033238 | SCV000057094 | pathogenic | Brown-Vialetto-van Laere syndrome 2 | 2013-02-01 | no assertion criteria provided | literature only | |
Gene |
RCV000033238 | SCV000246239 | not provided | Brown-Vialetto-van Laere syndrome 2 | no assertion provided | literature only |