Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000868580 | SCV001009925 | benign | Charcot-Marie-Tooth Neuropathy X; Combined oxidative phosphorylation deficiency | 2023-12-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002051816 | SCV002319081 | uncertain significance | not provided | 2022-03-14 | criteria provided, single submitter | clinical testing | Identified as heterozygous in several unrelated Chinese females with bilateral auditory neuropathy in published literature, and in one female with unilateral auditory neuropathy, suggesting possible X-linked dominant inheritance (Wang et al., 2020; Song et al., 2021); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in 37/14851 (0.2491%) alleles from individuals of East Asian background in large population cohorts (gnomAD); unknown if this represents a pathogenic founder variant or a common benign variant in this population; This variant is associated with the following publications: (PMID: 31832524, Chai_2021_Editorial, 34175691, 25986071, 32684920) |
Deafness Gene Diagnosis, |
RCV000149862 | SCV000196716 | likely pathogenic | Deafness, X-linked 5 | no assertion criteria provided | clinical testing | ||
OMIM | RCV000149862 | SCV000257353 | pathogenic | Deafness, X-linked 5 | 2015-08-01 | no assertion criteria provided | literature only |