ClinVar Miner

Submissions for variant NM_153614.4(DNAJB13):c.112G>A (p.Glu38Lys)

gnomAD frequency: 0.00163  dbSNP: rs145187500
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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 RCV000879304 SCV001022326 likely benign not provided 2025-01-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000879304 SCV005219433 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003908384 SCV004723475 likely benign DNAJB13-related disorder 2020-02-11 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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