Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Molecular Epidemiology of Birth Defects, |
RCV003154666 | SCV003843335 | benign | Ovarian cancer | 2022-01-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003164878 | SCV003908237 | uncertain significance | Inborn genetic diseases | 2023-02-28 | criteria provided, single submitter | clinical testing | The c.292A>G (p.M98V) alteration is located in exon 3 (coding exon 3) of the XPA gene. This alteration results from a A to G substitution at nucleotide position 292, causing the methionine (M) at amino acid position 98 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |