Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000598239 | SCV000703759 | uncertain significance | not provided | 2016-12-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003278926 | SCV003957443 | uncertain significance | Inborn genetic diseases | 2023-04-04 | criteria provided, single submitter | clinical testing | The c.2527G>T (p.D843Y) alteration is located in exon 22 (coding exon 22) of the WDR62 gene. This alteration results from a G to T substitution at nucleotide position 2527, causing the aspartic acid (D) at amino acid position 843 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |