ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.106-8G>A

gnomAD frequency: 0.00075  dbSNP: rs200587951
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193708 SCV000246626 uncertain significance not specified 2014-08-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000307211 SCV000351407 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.
CeGaT Center for Human Genetics Tuebingen RCV000658501 SCV000780269 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing ATP13A2: BP4
Athena Diagnostics RCV000658501 SCV000840989 benign not provided 2018-04-16 criteria provided, single submitter clinical testing
Invitae RCV001086028 SCV001015988 likely benign Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2024-01-08 criteria provided, single submitter clinical testing
GeneDx RCV000658501 SCV001813396 likely benign not provided 2019-03-27 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000307211 SCV000733957 likely benign Kufor-Rakeb syndrome no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000658501 SCV001972894 likely benign not provided no assertion criteria provided clinical testing

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