ClinVar Miner

Submissions for variant NM_001256864.2(DNAJC6):c.2183G>A (p.Ser728Asn)

gnomAD frequency: 0.20494  dbSNP: rs4915691
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001516089 SCV001724305 benign Juvenile onset Parkinson disease 19A 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001579333 SCV001935983 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001516089 SCV004049395 benign Juvenile onset Parkinson disease 19A 2023-04-11 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579333 SCV001806836 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727864 SCV001970177 benign not specified no assertion criteria provided clinical testing

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