ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.44375T>A (p.Ile14792Asn)

dbSNP: rs747654057
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000252768 SCV000318407 uncertain significance Cardiovascular phenotype 2013-02-27 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.
Labcorp Genetics (formerly Invitae), Labcorp RCV000532012 SCV000643188 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-06-05 criteria provided, single submitter clinical testing
GeneDx RCV001547440 SCV001767146 likely benign not provided 2020-09-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001547440 SCV003826593 uncertain significance not provided 2020-10-23 criteria provided, single submitter clinical testing

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