Submissions for variant NM_198578.4(LRRK2):c.5510-9A>G

gnomAD frequency: 0.00252  dbSNP: rs41286460

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000343337	SCV000378621	likely benign	Parkinson Disease, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000517120	SCV000614037	benign	not specified	2016-12-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000861381	SCV001001681	benign	Autosomal dominant Parkinson disease 8	2025-01-11	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000861381	SCV001272084	benign	Autosomal dominant Parkinson disease 8	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV001672469	SCV001891772	benign	not provided	2018-12-11	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000861381	SCV002797395	likely benign	Autosomal dominant Parkinson disease 8	2021-07-28	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001672469	SCV005216657	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003967891	SCV004778803	benign	LRRK2-related disorder	2019-12-18	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).