ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.54406_54409del (p.Gln18136fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003128373 SCV003804656 pathogenic Dilated cardiomyopathy 1G 2023-07-13 criteria provided, single submitter clinical testing Criteria applied: PVS1,PS4_SUP,PM2_SUP

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