ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.68827G>T (p.Ala22943Ser)

gnomAD frequency: 0.00001  dbSNP: rs878941853
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769968 SCV000901394 uncertain significance Cardiomyopathy 2017-07-14 criteria provided, single submitter clinical testing
Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen RCV000491781 SCV000298149 uncertain significance Arrhythmogenic right ventricular dysplasia 9 2016-05-01 no assertion criteria provided clinical testing

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