Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003246826 | SCV003939312 | uncertain significance | Inborn genetic diseases | 2023-04-05 | criteria provided, single submitter | clinical testing | The c.775G>T (p.D259Y) alteration is located in exon 8 (coding exon 8) of the MCCC2 gene. This alteration results from a G to T substitution at nucleotide position 775, causing the aspartic acid (D) at amino acid position 259 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001279169 | SCV001466251 | uncertain significance | Methylcrotonyl-CoA carboxylase deficiency | 2020-09-25 | no assertion criteria provided | clinical testing |