ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.4939T>A (p.Ser1647Thr)

gnomAD frequency: 0.26687  dbSNP: rs11564148
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000032475 SCV000378617 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000032475 SCV001729642 benign Autosomal dominant Parkinson disease 8 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001762077 SCV001988716 benign not provided 2021-10-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30917570, 23842774, 20629711, 20721913, 31085292, 20186690, 26311745)
Fulgent Genetics, Fulgent Genetics RCV000032475 SCV002805467 benign Autosomal dominant Parkinson disease 8 2021-07-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001762077 SCV005230020 benign not provided criteria provided, single submitter not provided
GeneReviews RCV000032475 SCV000056135 not provided Autosomal dominant Parkinson disease 8 no assertion provided literature only
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579541 SCV001807618 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579541 SCV001970726 benign not specified no assertion criteria provided clinical testing

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