ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.97949G>A (p.Cys32650Tyr)

gnomAD frequency: 0.00006  dbSNP: rs535612231
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623487 SCV000741989 uncertain significance Inborn genetic diseases 2016-12-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000643464 SCV000765151 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-18 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139951 SCV003827901 uncertain significance not provided 2022-09-27 criteria provided, single submitter clinical testing

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