ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.75527G>A (p.Arg25176His) (rs375693396)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000294438 SCV000337103 uncertain significance not provided 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000459157 SCV000542560 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-07-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618051 SCV000736542 likely benign Cardiovascular phenotype 2020-08-25 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Fulgent Genetics,Fulgent Genetics RCV000764316 SCV000895335 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Myopathy, early-onset, with fatal cardiomyopathy; Familial hypertrophic cardiomyopathy 9 2018-10-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000294438 SCV001248648 uncertain significance not provided 2019-12-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000294438 SCV001715758 uncertain significance not provided 2021-02-22 criteria provided, single submitter clinical testing
GeneDx RCV000294438 SCV001815432 likely benign not provided 2020-10-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31983221)

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