ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.30683-28_30683-16del

dbSNP: rs764830728
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198113 SCV001368929 likely benign Tibial muscular dystrophy 2019-03-26 criteria provided, single submitter clinical testing This variant was classified as: Likely benign.
Invitae RCV002071851 SCV002397091 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003222251 SCV003916198 benign not provided 2024-04-01 criteria provided, single submitter clinical testing TTN: BS1, BS2

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