ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln)

gnomAD frequency: 0.01203  dbSNP: rs56367069
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000116445 SCV000150370 benign not specified 2013-08-16 criteria provided, single submitter clinical testing
Eurofins NTD LLC (GA) RCV000116445 SCV000225063 benign not specified 2015-01-22 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000116445 SCV000313960 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000555414 SCV000640203 benign Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2020-12-07 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000675905 SCV000841010 benign not provided 2017-08-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715715 SCV000846546 benign History of neurodevelopmental disorder 2016-04-11 criteria provided, single submitter clinical testing General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Laboratory Services,Illumina RCV001099191 SCV001255621 likely benign Kufor-Rakeb syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000675905 SCV001832223 benign not provided 2019-10-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27294386, 19705361, 22743658, 22995991)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000116445 SCV002051006 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000675905 SCV002496462 benign not provided 2022-04-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories,Mayo Clinic RCV000675905 SCV000801632 uncertain significance not provided 2017-11-13 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000675905 SCV001799294 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000675905 SCV001808482 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000675905 SCV001972657 likely benign not provided no assertion criteria provided clinical testing

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