ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.92152+7T>G

gnomAD frequency: 0.00002  dbSNP: rs574211300
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000547021 SCV000643896 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-04-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001528902 SCV005188106 uncertain significance not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528902 SCV001741443 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727745 SCV001970994 benign not specified no assertion criteria provided clinical testing

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