ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.6054C>T (p.Ile2018=)

gnomAD frequency: 0.00002  dbSNP: rs369700204
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617488 SCV000734913 likely benign Cardiovascular phenotype 2017-01-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769235 SCV000900611 likely benign Cardiomyopathy 2022-11-17 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000769235 SCV001355073 likely benign Cardiomyopathy 2019-02-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001473642 SCV001677796 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2025-01-05 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002640 SCV004823360 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2024-02-05 criteria provided, single submitter clinical testing

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