ClinVar Miner

Submissions for variant NM_001195248.2(APTX):c.762G>A (p.Pro254=) (rs571475924)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000396031 SCV000332087 benign not specified 2015-06-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265858 SCV000479622 likely benign Ataxia-oculomotor apraxia type 1 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000302324 SCV000479623 uncertain significance Coenzyme Q10 deficiency, Oculomotor Apraxia Type 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710596 SCV000840839 benign not provided 2017-09-06 criteria provided, single submitter clinical testing
Invitae RCV000710596 SCV001059700 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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