Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152154 | SCV000200854 | likely benign | not specified | 2017-03-29 | criteria provided, single submitter | clinical testing | c.6936+13G>T in intron 22 of TRIOBP: This variant is not expected to have clinic al significance because it does not alter an amino acid residue and is not locat ed within the splice consensus sequence. It has been identified in 0.2% (69/3358 0) of Latino chromosomes, including 1 homozygote, by the Genome Aggregation Data base (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs727503529). |
Labcorp Genetics |
RCV002056011 | SCV002453862 | benign | not provided | 2024-01-02 | criteria provided, single submitter | clinical testing |