ClinVar Miner

Submissions for variant NM_001256864.2(DNAJC6):c.745A>G (p.Ile249Val)

gnomAD frequency: 0.00357  dbSNP: rs149588872
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000651848 SCV000773704 benign Juvenile onset Parkinson disease 19A 2024-01-02 criteria provided, single submitter clinical testing
GeneDx RCV001672917 SCV001882070 benign not provided 2020-06-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000651848 SCV004049374 benign Juvenile onset Parkinson disease 19A 2023-04-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001672917 SCV004128244 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing DNAJC6: BS2

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