ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.*120A>T

gnomAD frequency: 0.00422  dbSNP: rs41273151
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000585408 SCV000692607 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing ATP13A2: PP3, BS2
Illumina Laboratory Services, Illumina RCV000608049 SCV001253420 benign 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 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.
PreventionGenetics, part of Exact Sciences RCV004553300 SCV004786564 likely benign ATP13A2-related disorder 2019-09-20 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000608049 SCV000733948 likely benign Kufor-Rakeb syndrome no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000585408 SCV001807777 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000585408 SCV001972139 likely benign not provided no assertion criteria provided clinical testing

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