ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.1000G>A (p.Glu334Lys)

gnomAD frequency: 0.00266  dbSNP: rs78501232
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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 RCV000032402 SCV000378576 likely benign Autosomal dominant Parkinson disease 8 2018-03-06 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.
CeGaT Center for Human Genetics Tuebingen RCV000415849 SCV000493639 benign not provided 2023-09-01 criteria provided, single submitter clinical testing LRRK2: BP4, BS1, BS2
Invitae RCV000032402 SCV001014939 benign Autosomal dominant Parkinson disease 8 2024-01-18 criteria provided, single submitter clinical testing
Mendelics RCV000032402 SCV001138687 uncertain significance Autosomal dominant Parkinson disease 8 2019-05-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001659922 SCV001880899 benign not specified 2020-11-11 criteria provided, single submitter clinical testing
GeneReviews RCV000032402 SCV000056058 not provided Autosomal dominant Parkinson disease 8 no assertion provided literature only

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