ClinVar Miner

Submissions for variant NM_004562.3(PRKN):c.574A>C (p.Met192Leu)

gnomAD frequency: 0.01850  dbSNP: rs9456735
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000712860 SCV000560143 benign not provided 2024-01-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712860 SCV000843399 benign not provided 2018-06-28 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000732668 SCV000860645 benign not specified 2018-04-12 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001080145 SCV001318450 benign Autosomal recessive juvenile Parkinson disease 2 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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