ClinVar Miner

Submissions for variant NM_001012339.3(DNAJC21):c.222A>G (p.Lys74=)

gnomAD frequency: 0.00037  dbSNP: rs148637112
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000907828 SCV001052556 benign not provided 2023-10-24 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV003151208 SCV003839431 likely benign not specified 2022-09-07 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003950684 SCV004766043 likely benign DNAJC21-related disorder 2019-11-25 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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