Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
MGZ Medical Genetics Center | RCV002288405 | SCV002580728 | uncertain significance | Vanishing white matter disease | 2022-04-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004617032 | SCV005119483 | uncertain significance | Inborn genetic diseases | 2024-05-15 | criteria provided, single submitter | clinical testing | The c.667C>T (p.R223C) alteration is located in exon 4 (coding exon 4) of the EIF2B5 gene. This alteration results from a C to T substitution at nucleotide position 667, causing the arginine (R) at amino acid position 223 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |