ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.598-4G>A (rs747448946)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621482 SCV000736192 uncertain significance Cardiovascular phenotype 2017-12-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
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.
Invitae RCV000531712 SCV000641328 likely benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2017-11-21 criteria provided, single submitter clinical testing

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