ClinVar Miner

Submissions for variant NM_001256864.2(DNAJC6):c.544-9C>T

gnomAD frequency: 0.25003  dbSNP: rs2296481
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001522533 SCV001732099 benign Juvenile onset Parkinson disease 19A 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001647321 SCV001860239 benign not provided 2018-08-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001522533 SCV004049372 benign Juvenile onset Parkinson disease 19A 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001647321 SCV005287362 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579584 SCV001807800 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579584 SCV001976030 benign not specified no assertion criteria provided clinical testing

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