ClinVar Miner

Submissions for variant NM_004562.3(PRKN):c.535-9T>A

gnomAD frequency: 0.00038  dbSNP: rs201039350
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001507158 SCV001006852 benign not provided 2023-09-18 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000865829 SCV001318451 uncertain significance 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Baylor Genetics RCV000865829 SCV001524818 uncertain significance Autosomal recessive juvenile Parkinson disease 2 2020-04-07 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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