Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Genetics Laboratory, |
RCV001173337 | SCV001336425 | uncertain significance | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Gene |
RCV003227920 | SCV003924815 | likely pathogenic | not provided | 2022-11-10 | criteria provided, single submitter | clinical testing | Observed in an individual with suspected Charcot Marie Tooth disease in published literature; however, no further clinical or segregation information was provided (Volodarsky 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: 24388491, 25439726, 22965130, 32376792, 15108294) |
Ambry Genetics | RCV004032949 | SCV004886341 | uncertain significance | Inborn genetic diseases | 2023-12-27 | criteria provided, single submitter | clinical testing | The c.1807C>G (p.R603G) alteration is located in exon 13 (coding exon 13) of the IGHMBP2 gene. This alteration results from a C to G substitution at nucleotide position 1807, causing the arginine (R) at amino acid position 603 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |