Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001330891 | SCV001522737 | uncertain significance | Autosomal dominant nonsyndromic hearing loss 56 | 2019-09-25 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Ambry Genetics | RCV002546421 | SCV003716144 | uncertain significance | Inborn genetic diseases | 2022-04-25 | criteria provided, single submitter | clinical testing | The c.2239C>T (p.R747W) alteration is located in exon 5 (coding exon 4) of the TNC gene. This alteration results from a C to T substitution at nucleotide position 2239, causing the arginine (R) at amino acid position 747 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |