ClinVar Miner

Submissions for variant NM_153614.4(DNAJB13):c.757G>A (p.Asp253Asn)

gnomAD frequency: 0.00139  dbSNP: rs140556652
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV000853219 SCV000996031 likely benign Primary ciliary dyskinesia 34 2019-07-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000972297 SCV001120001 likely benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000853219 SCV003831770 uncertain significance Primary ciliary dyskinesia 34 2021-08-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955562 SCV004774812 likely benign DNAJB13-related disorder 2023-09-03 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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