ClinVar Miner

Submissions for variant NM_000360.4(TH):c.16G>A (p.Ala6Thr) (rs74555599)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000609157 SCV000291895 benign Autosomal recessive DOPA responsive dystonia 2020-12-05 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000488317 SCV000574870 uncertain significance not provided 2018-11-01 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000609157 SCV000745022 benign Autosomal recessive DOPA responsive dystonia 2016-02-05 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000488317 SCV000844486 benign not provided 2018-02-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000609157 SCV001262352 benign 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). 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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000609157 SCV000733021 likely benign Autosomal recessive DOPA responsive dystonia no assertion criteria provided clinical testing
Natera, Inc. RCV000609157 SCV001457482 benign Autosomal recessive DOPA responsive dystonia 2020-04-12 no assertion criteria provided clinical testing

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