ClinVar Miner

Submissions for variant NM_004562.3(PRKN):c.1096C>T (p.Arg366Trp)

gnomAD frequency: 0.00012  dbSNP: rs56092260
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000858940 SCV000766635 likely benign not provided 2023-08-23 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000034119 SCV001315765 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.
GeneReviews RCV000034119 SCV000058049 not provided Autosomal recessive juvenile Parkinson disease 2 no assertion provided literature only

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