Submissions for variant NM_004562.3(PRKN):c.-30T>C

gnomAD frequency: 0.00671  dbSNP: rs200065081

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000336948	SCV000461696	likely benign	Autosomal recessive juvenile Parkinson disease 2	2018-01-12	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.
GeneDx	RCV001545048	SCV001764299	likely benign	not provided	2020-06-30	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003922570	SCV004737407	benign	PRKN-related disorder	2019-03-19	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).