Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000756265 | SCV000884022 | likely benign | not provided | 2017-06-07 | criteria provided, single submitter | clinical testing | The IDH3B c.74G>A;p.Gly25Asp variant (rs113021673) is listed in the Exome Variant Server with an allele frequency of 0.7944 percent (35/4371 alleles) in the African American population and in the Genome Aggregation Database with an allele frequency of 0.9083 percent (218/24000 alleles, 4 homozygotes) in the African population. The amino acid at this position is weakly conserved across species and computational algorithms (AlignGVGD, PolyPhen2, SIFT) predict this variant is tolerated. Considering available information, this variant is classified as likely benign. |
Labcorp Genetics |
RCV000756265 | SCV001046220 | likely benign | not provided | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000756265 | SCV005207245 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Clinical Genetics, |
RCV000756265 | SCV002034639 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000756265 | SCV002037863 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Prevention |
RCV003908065 | SCV004725026 | benign | IDH3B-related disorder | 2019-08-28 | no assertion criteria provided | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |