ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1388T>C (p.Leu463Pro)

dbSNP: rs1758934036
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute RCV001089607 SCV001245081 uncertain significance Syncope; Paroxysmal atrial fibrillation; Right ventricular dilatation; Ventricular tachycardia; Abnormal left ventricular function 2018-06-07 criteria provided, single submitter research This variant has been identified as part of our research program. This variant was identified in a proband with paroxysmal atrial fibrillation, non-sustained VT, presyncope, mild LV dysfunction, mild left ventricular dilatation and mild right ventricular dilatation. For further information please feel free to contact us.

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