Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV002249754 | SCV002516743 | benign | not specified | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002558733 | SCV003718392 | uncertain significance | Inborn genetic diseases | 2021-08-04 | criteria provided, single submitter | clinical testing | The c.3737A>G (p.Y1246C) alteration is located in exon 23 (coding exon 20) of the WDFY3 gene. This alteration results from a A to G substitution at nucleotide position 3737, causing the tyrosine (Y) at amino acid position 1246 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Shen Lab, |
RCV001172305 | SCV001335258 | likely pathogenic | Tracheoesophageal fistula | 2019-07-01 | no assertion criteria provided | research |