ClinVar Miner

Submissions for variant NM_001256864.2(DNAJC6):c.1456C>T (p.Leu486Phe)

gnomAD frequency: 0.01170  dbSNP: rs78141380
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514540 SCV000610387 likely benign not provided 2017-02-27 criteria provided, single submitter clinical testing
Invitae RCV001083387 SCV000773703 benign Juvenile onset Parkinson disease 19A 2023-11-13 criteria provided, single submitter clinical testing
GeneDx RCV000514540 SCV001780625 likely benign not provided 2020-04-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001083387 SCV002802327 likely benign Juvenile onset Parkinson disease 19A 2021-08-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001083387 SCV004049381 likely benign Juvenile onset Parkinson disease 19A 2023-04-11 criteria provided, single submitter clinical testing

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