Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000469742 | SCV000551599 | benign | Perlman syndrome | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002525589 | SCV003532874 | uncertain significance | Inborn genetic diseases | 2021-11-12 | criteria provided, single submitter | clinical testing | The c.1019A>G (p.Y340C) alteration is located in exon 9 (coding exon 8) of the DIS3L2 gene. This alteration results from a A to G substitution at nucleotide position 1019, causing the tyrosine (Y) at amino acid position 340 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |