ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.3497-8del

dbSNP: rs201739149
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000388404 SCV000378596 likely benign Autosomal dominant Parkinson disease 8 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712247 SCV000842692 benign not provided 2018-06-29 criteria provided, single submitter clinical testing
GeneDx RCV000712247 SCV001872218 benign not provided 2019-02-07 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25980689)
Invitae RCV000388404 SCV002408739 benign Autosomal dominant Parkinson disease 8 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000388404 SCV002802034 benign Autosomal dominant Parkinson disease 8 2021-09-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003977902 SCV004793787 likely benign LRRK2-related condition 2023-12-28 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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