ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.598-4G>A

gnomAD frequency: 0.00003  dbSNP: rs747448946
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208515 SCV000263885 uncertain significance Primary familial hypertrophic cardiomyopathy 2015-11-20 criteria provided, single submitter clinical testing
GeneDx RCV000443483 SCV000522113 likely benign not specified 2015-12-11 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000531712 SCV000641328 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621482 SCV000736192 likely benign Cardiovascular phenotype 2023-09-18 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.
Color Diagnostics, LLC DBA Color Health RCV001190669 SCV001358224 likely benign Cardiomyopathy 2019-03-30 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003997684 SCV004819108 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2024-01-11 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000443483 SCV005882829 likely benign not specified 2025-02-17 criteria provided, single submitter clinical testing

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