Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV001007566 | SCV001426220 | uncertain significance | Beck-Fahrner syndrome | 2020-07-22 | criteria provided, single submitter | curation | This variant is interpreted as a variant of uncertain significance for Beck-Fahrner syndrome, autosomal recessive. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); For recessive disorders, detected in trans with a (likely)pathogenic variant (PM3). |
Ambry Genetics | RCV004030286 | SCV004964555 | uncertain significance | Inborn genetic diseases | 2021-12-16 | criteria provided, single submitter | clinical testing | The c.1849C>T (p.R617C) alteration is located in exon 1 (coding exon 1) of the TET3 gene. This alteration results from a C to T substitution at nucleotide position 1849, causing the arginine (R) at amino acid position 617 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
OMIM | RCV001007566 | SCV001167187 | pathogenic | Beck-Fahrner syndrome | 2020-06-16 | no assertion criteria provided | literature only | |
University of Washington Center for Mendelian Genomics, |
RCV001257922 | SCV001434731 | likely pathogenic | TET3 deficiency | no assertion criteria provided | research |