ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.34307A>G (p.Lys11436Arg)

gnomAD frequency: 0.00195  dbSNP: rs568554504
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474897 SCV000542994 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-07-27 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001289367 SCV001477126 benign not specified 2019-11-12 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001729599 SCV004563285 likely benign not provided 2023-03-28 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001289367 SCV001979169 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001729599 SCV001980112 likely benign not provided no assertion criteria provided clinical testing

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