ClinVar Miner

Submissions for variant NM_004562.3(PRKN):c.744C>G (p.Val248=)

gnomAD frequency: 0.00006  dbSNP: rs771437898
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001399204 SCV001600989 likely benign not provided 2023-01-09 criteria provided, single submitter clinical testing
Genetics and Molecular Pathology, SA Pathology RCV002466675 SCV002761558 uncertain significance Autosomal recessive juvenile Parkinson disease 2 2020-08-25 criteria provided, single submitter clinical testing

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