ClinVar Miner

Submissions for variant NM_015268.4(DNAJC13):c.4543C>T (p.Pro1515Ser)

gnomAD frequency: 0.01828  dbSNP: rs55825559
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV001579431 SCV005257762 likely benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579431 SCV001807212 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726601 SCV001967885 benign not specified no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003921243 SCV004736467 benign DNAJC13-related disorder 2019-09-20 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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