ClinVar Miner

Submissions for variant NM_001256864.2(DNAJC6):c.2254A>T (p.Thr752Ser)

gnomAD frequency: 0.00201  dbSNP: rs113143702
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000873884 SCV001015972 likely benign Juvenile onset Parkinson disease 19A 2023-11-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975463 SCV004792339 benign DNAJC6-related disorder 2019-09-24 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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