Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000889344 | SCV001033021 | benign | not provided | 2025-02-03 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001108263 | SCV001265483 | benign | Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Gene |
RCV000889344 | SCV001848459 | benign | not provided | 2021-05-10 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000889344 | SCV002497052 | benign | not provided | 2024-08-01 | criteria provided, single submitter | clinical testing | POLR3A: PM5, BP4, BS1, BS2 |
Fulgent Genetics, |
RCV002498524 | SCV002807783 | likely benign | Neonatal pseudo-hydrocephalic progeroid syndrome; Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome | 2021-12-17 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000889344 | SCV005315984 | benign | not provided | criteria provided, single submitter | not provided | ||
Genetic Services Laboratory, |
RCV000118024 | SCV000152342 | likely benign | not specified | no assertion criteria provided | clinical testing | Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed. |