ClinVar Miner

Submissions for variant NM_004562.3(PRKN):c.*140A>G

dbSNP: rs1182122095
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001156804 SCV001318330 uncertain significance Autosomal recessive juvenile Parkinson disease 2 2017-04-28 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Fulgent Genetics, Fulgent Genetics RCV002497583 SCV002812891 uncertain significance Autosomal recessive juvenile Parkinson disease 2; Ovarian neoplasm; Lung cancer 2021-09-03 criteria provided, single submitter clinical testing

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