ClinVar Miner

Submissions for variant NM_145261.4(DNAJC19):c.285A>C (p.Gly95=)

gnomAD frequency: 0.00755  dbSNP: rs17850540
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124750 SCV000168189 benign not specified 2013-10-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001083579 SCV000641955 benign 3-methylglutaconic aciduria type 5 2024-01-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000677065 SCV001335126 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing DNAJC19: BP4, BS2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000124750 SCV001338181 benign not specified 2020-02-22 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000677065 SCV000802901 benign not provided 2016-02-24 no assertion criteria provided clinical testing

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