Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001769121 | SCV002003217 | uncertain significance | not provided | 2020-01-21 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
Fulgent Genetics, |
RCV002477982 | SCV002788569 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome | 2022-01-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002540485 | SCV003619629 | uncertain significance | Inborn genetic diseases | 2022-05-27 | criteria provided, single submitter | clinical testing | The c.803A>G (p.N268S) alteration is located in exon 7 (coding exon 6) of the SLC26A4 gene. This alteration results from a A to G substitution at nucleotide position 803, causing the asparagine (N) at amino acid position 268 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |