ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.379G>T (p.Asp127Tyr)

dbSNP: rs1114167340
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen RCV000490996 SCV000298147 likely pathogenic Cardiomyopathy, familial restrictive, 1 2016-05-01 no assertion criteria provided clinical testing

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