ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.36737A>T (p.Glu12246Val)

gnomAD frequency: 0.00012  dbSNP: rs786205395
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172353 SCV000055018 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000227491 SCV000286610 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-06 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000172353 SCV003818547 uncertain significance not provided 2021-12-15 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000172353 SCV001740064 uncertain significance not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000172353 SCV001808306 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000172353 SCV001918555 uncertain significance not provided no assertion criteria provided clinical testing

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