ClinVar Miner

Submissions for variant NM_001256864.2(DNAJC6):c.144G>T (p.Arg48=)

gnomAD frequency: 0.00003  dbSNP: rs779540362
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002198298 SCV002485385 likely benign Juvenile onset Parkinson disease 19A 2023-08-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003408163 SCV004128243 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing DNAJC6: BP4, BP7

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