ClinVar Miner

Submissions for variant NM_032409.3(PINK1):c.189C>T (p.Leu63=)

gnomAD frequency: 0.15436  dbSNP: rs45530340
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249312 SCV000314908 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000576424 SCV000353508 benign Autosomal recessive early-onset Parkinson disease 6 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.
Athena Diagnostics Inc RCV000576424 SCV000677384 benign Autosomal recessive early-onset Parkinson disease 6 2017-04-27 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000249312 SCV000705792 benign not specified 2017-02-01 criteria provided, single submitter clinical testing
Invitae RCV000576424 SCV001727276 benign Autosomal recessive early-onset Parkinson disease 6 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001536653 SCV001753443 benign not provided 2018-08-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000249312 SCV001809665 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000249312 SCV001972449 benign not specified no assertion criteria provided clinical testing

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