ClinVar Miner

Submissions for variant NM_000360.4(TH):c.267G>A (p.Arg89=)

gnomAD frequency: 0.00359  dbSNP: rs76240471
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246453 SCV000317146 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000246453 SCV000338376 benign not specified 2015-12-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000311361 SCV000369927 benign Autosomal recessive DOPA responsive dystonia 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000311361 SCV000563355 benign Autosomal recessive DOPA responsive dystonia 2024-01-31 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000311361 SCV000745020 likely benign Autosomal recessive DOPA responsive dystonia 2015-09-21 criteria provided, single submitter clinical testing
GeneDx RCV000829331 SCV000971047 benign not provided 2018-04-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV000311361 SCV001754955 benign Autosomal recessive DOPA responsive dystonia 2021-07-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000829331 SCV005223158 likely benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000311361 SCV000733020 likely benign Autosomal recessive DOPA responsive dystonia no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000311361 SCV000745785 likely benign Autosomal recessive DOPA responsive dystonia 2016-11-04 no assertion criteria provided clinical testing
Natera, Inc. RCV000311361 SCV001463822 benign Autosomal recessive DOPA responsive dystonia 2020-09-16 no assertion criteria provided clinical testing

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