Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002514508 | SCV003696752 | uncertain significance | Inborn genetic diseases | 2022-12-23 | criteria provided, single submitter | clinical testing | The c.1019A>G (p.E340G) alteration is located in exon 10 (coding exon 10) of the DTNBP1 gene. This alteration results from a A to G substitution at nucleotide position 1019, causing the glutamic acid (E) at amino acid position 340 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Psychiatry Genetics Yale University | RCV000084667 | SCV000116803 | not provided | not provided | no assertion provided | not provided |