Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Foundation for Research in Genetics and Endocrinology, |
RCV001225312 | SCV001370541 | uncertain significance | Hearing loss, autosomal dominant 71 | 2020-04-22 | criteria provided, single submitter | clinical testing | A heterozygous missense variation in exon 24 of the DMXL2 gene that results in the amino acid substitution of Threonine for Alanine at codon 2083 was detected. The observed variant c.6247G>A (p.Ala2083Thr) has not been reported in the 1000 genomes and has a minor allele frequency of 0.007% in the ExAC database. The in silico prediction of the variant are possibly damaging by PolyPhen-2 (HumDiv) and damaging by SIFT, LRT and MutationTaster2. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as a variant of uncertain significance. |
Invitae | RCV003770262 | SCV004641223 | likely benign | not provided | 2023-11-19 | criteria provided, single submitter | clinical testing |