ClinVar Miner

Submissions for variant NM_153614.4(DNAJB13):c.19T>A (p.Ser7Thr)

gnomAD frequency: 0.00016  dbSNP: rs202023755
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002115766 SCV002405124 benign not provided 2024-12-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002115766 SCV004184173 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing DNAJB13: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV002115766 SCV005232231 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003958733 SCV004774041 likely benign DNAJB13-related disorder 2019-11-14 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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