ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.36952G>A (p.Val12318Ile)

gnomAD frequency: 0.01857  dbSNP: rs762149243
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000228135 SCV000286613 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-08-09 criteria provided, single submitter clinical testing
GeneDx RCV001572813 SCV001909784 benign not provided 2018-06-23 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572813 SCV001797766 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001572813 SCV001927694 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727646 SCV001974464 benign not specified no assertion criteria provided clinical testing

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