ClinVar Miner

Submissions for variant NM_153614.4(DNAJB13):c.374T>G (p.Phe125Cys)

gnomAD frequency: 0.00181  dbSNP: rs139317756
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000882767 SCV001026025 likely benign not provided 2025-01-16 criteria provided, single submitter clinical testing
Johns Hopkins Genomics, Johns Hopkins University RCV002282397 SCV002570345 likely benign Primary ciliary dyskinesia 34 2022-08-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003910413 SCV004722836 likely benign DNAJB13-related disorder 2021-09-13 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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