Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001337109 | SCV001530686 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 28 | 2018-10-28 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Gene |
RCV001560410 | SCV001782820 | uncertain significance | not provided | 2021-03-13 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect |
Ambry Genetics | RCV002547365 | SCV003720806 | uncertain significance | Inborn genetic diseases | 2021-08-30 | criteria provided, single submitter | clinical testing | The c.6632A>T (p.Q2211L) alteration is located in exon 20 (coding exon 18) of the TRIOBP gene. This alteration results from a A to T substitution at nucleotide position 6632, causing the glutamine (Q) at amino acid position 2211 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |