Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001103468 | SCV001001006 | likely benign | Autosomal recessive DOPA responsive dystonia | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001103468 | SCV001260233 | uncertain significance | Autosomal recessive DOPA responsive dystonia | 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Baylor Genetics | RCV001103468 | SCV001523142 | uncertain significance | Autosomal recessive DOPA responsive dystonia | 2020-02-01 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Gene |
RCV001585801 | SCV001821055 | uncertain significance | not provided | 2023-01-10 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Prevention |
RCV003928326 | SCV004748905 | likely benign | TH-related condition | 2019-06-04 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Natera, |
RCV001103468 | SCV001457479 | likely benign | Autosomal recessive DOPA responsive dystonia | 2020-04-12 | no assertion criteria provided | clinical testing |