ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.4536+3A>G

gnomAD frequency: 0.00027  dbSNP: rs41286476
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000873745 SCV001015801 likely benign Autosomal dominant Parkinson disease 8 2024-12-05 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000873745 SCV001268357 uncertain significance Autosomal dominant Parkinson disease 8 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000873745 SCV001367803 uncertain significance Autosomal dominant Parkinson disease 8 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PM1,PP3.
GeneDx RCV001766781 SCV001988691 benign not provided 2021-08-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25525159, 16157909, 32870915)

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