ClinVar Miner

Submissions for variant NM_001256864.2(DNAJC6):c.2526A>G (p.Leu842=)

gnomAD frequency: 0.00004  dbSNP: rs753691766
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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 RCV002262237 SCV002544288 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing DNAJC6: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003095957 SCV002969849 likely benign Juvenile onset Parkinson disease 19A 2022-07-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003095957 SCV004049398 likely benign Juvenile onset Parkinson disease 19A 2023-04-11 criteria provided, single submitter clinical testing

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