ClinVar Miner

Submissions for variant NM_004562.3(PRKN):c.1302G>A (p.Met434Ile)

dbSNP: rs949479970
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332482 SCV001524817 uncertain significance Autosomal recessive juvenile Parkinson disease 2 2020-06-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Breakthrough Genomics, Breakthrough Genomics RCV004692558 SCV005189343 uncertain significance not provided criteria provided, single submitter not provided

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