ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=) (rs144557304)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192784 SCV000246628 uncertain significance not specified 2016-07-25 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725226 SCV000335138 uncertain significance not provided 2015-09-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000316626 SCV000351370 uncertain significance Kufor-Rakeb syndrome 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Ambry Genetics RCV000717080 SCV000847926 likely benign History of neurodevelopmental disorder 2018-12-20 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV001085655 SCV001016453 benign Kufor-Rakeb syndrome; Spastic paraplegia 78, autosomal recessive 2019-12-31 criteria provided, single submitter clinical testing

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