ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.174A>G (p.Gln58=)

gnomAD frequency: 0.00006  dbSNP: rs140384933
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001187316 SCV001354085 likely benign Cardiomyopathy 2018-11-27 criteria provided, single submitter clinical testing
Invitae RCV001237446 SCV001410206 benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-01-04 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001187316 SCV002043285 likely benign Cardiomyopathy 2019-06-17 criteria provided, single submitter clinical testing
GeneDx RCV002280163 SCV002568693 uncertain significance not provided 2022-02-24 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports a deleterious effect on splicing
Mayo Clinic Laboratories, Mayo Clinic RCV002280163 SCV004227183 uncertain significance not provided 2022-02-15 criteria provided, single submitter clinical testing

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