ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.6732C>T (p.Asp2244=)

gnomAD frequency: 0.00002  dbSNP: rs764124433
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001178897 SCV001343461 likely benign Cardiomyopathy 2018-11-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001399735 SCV001601533 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-12-22 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006510 SCV004840867 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2023-12-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003953569 SCV004775598 likely benign DSP-related disorder 2024-02-08 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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