ClinVar Miner

Submissions for variant NM_001195248.2(APTX):c.484-25_484-5del (rs200922655)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179561 SCV000231824 benign not specified 2014-12-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000263758 SCV000479628 benign Ataxia with Oculomotor Apraxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319013 SCV000479629 benign Coenzyme Q10 deficiency, Oculomotor Apraxia Type 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000179561 SCV000538338 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000999774 SCV000602539 benign Ataxia-oculomotor apraxia type 1 2018-08-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000179561 SCV000612394 benign not specified 2017-06-09 criteria provided, single submitter clinical testing
GeneDx RCV000179561 SCV000728536 benign not specified 2018-03-08 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.
Invitae RCV000676810 SCV001094560 likely benign not provided 2017-06-06 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676810 SCV000802619 benign not provided 2016-03-09 no assertion criteria provided clinical testing

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