ClinVar Miner

Submissions for variant NM_004562.3(PRKN):c.110C>T (p.Pro37Leu)

gnomAD frequency: 0.00024  dbSNP: rs148990138
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090783 SCV001246505 pathogenic not provided 2020-03-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001154507 SCV001315877 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). 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.
Invitae RCV001090783 SCV003251529 likely benign not provided 2023-09-05 criteria provided, single submitter clinical testing

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