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

gnomAD frequency: 0.00075  dbSNP: rs200587951

Total submissions: 8

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 Inc	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