ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.3778-9C>T

gnomAD frequency: 0.01375  dbSNP: rs114948984
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000312332 SCV000378600 benign Autosomal dominant Parkinson disease 8 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000312332 SCV000762642 benign Autosomal dominant Parkinson disease 8 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001546584 SCV001766122 likely benign not provided 2021-03-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000312332 SCV002798349 benign Autosomal dominant Parkinson disease 8 2021-08-10 criteria provided, single submitter clinical testing

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