Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000032441 | SCV000640128 | likely benign | Autosomal dominant Parkinson disease 8 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000657893 | SCV000779657 | uncertain significance | not provided | 2022-08-19 | criteria provided, single submitter | clinical testing | Reported previously in individuals with Parkinson disease, however L119P was also seen in control subjects (Jasinska-Myga et al., 2010; Ross et al., 2011; Benitez et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28130640, 25466404, 31980526, 33836114, 31996268, 29369408, 27393345, 32557143, 28842327, 20721913, 25174650, 27294386, 21885347, 27094865, 34542912, Kalogeropulou2022[functionalstudy], 33454605) |
Illumina Laboratory Services, |
RCV000032441 | SCV001268188 | likely benign | Autosomal dominant Parkinson disease 8 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Ce |
RCV000657893 | SCV003917202 | likely benign | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | LRRK2: BS1 |
Gene |
RCV000032441 | SCV000056098 | not provided | Autosomal dominant Parkinson disease 8 | no assertion provided | literature only |