Submissions for variant NM_022089.4(ATP13A2):c.1195+10G>A

gnomAD frequency: 0.00585  dbSNP: rs55689004

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174396	SCV000225688	benign	not specified	2014-11-07	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000285453	SCV000351398	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001086105	SCV000640181	benign	Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78	2024-01-28	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000174396	SCV001476168	benign	not specified	2020-02-11	criteria provided, single submitter	clinical testing
GeneDx	RCV000675902	SCV001822899	likely benign	not provided	2018-10-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000675902	SCV005259360	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000285453	SCV000733954	likely benign	Kufor-Rakeb syndrome		no assertion criteria provided	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675902	SCV000801629	benign	not provided	2017-05-23	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000174396	SCV001807442	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000675902	SCV001970043	likely benign	not provided		no assertion criteria provided	clinical testing