Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001471926 | SCV001676049 | likely benign | Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003339649 | SCV004057874 | uncertain significance | Inborn genetic diseases | 2023-07-14 | criteria provided, single submitter | clinical testing | The c.2704G>A (p.V902I) alteration is located in exon 21 (coding exon 21) of the SYNJ1 gene. This alteration results from a G to A substitution at nucleotide position 2704, causing the valine (V) at amino acid position 902 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |