ClinVar Miner

Submissions for variant NM_015268.4(DNAJC13):c.5560+4A>T

gnomAD frequency: 0.03703  dbSNP: rs80120242
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001685546 SCV001901985 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001685546 SCV005300032 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001580135 SCV001809794 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001580135 SCV001971020 benign not specified no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003983986 SCV004796676 benign DNAJC13-related disorder 2019-03-07 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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