Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000594986 | SCV000703761 | uncertain significance | not provided | 2016-12-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003278927 | SCV003957444 | uncertain significance | Inborn genetic diseases | 2023-04-04 | criteria provided, single submitter | clinical testing | The c.3748C>G (p.R1250G) alteration is located in exon 30 (coding exon 30) of the WDR62 gene. This alteration results from a C to G substitution at nucleotide position 3748, causing the arginine (R) at amino acid position 1250 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |