ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.18371C>A (p.Thr6124Lys)

dbSNP: rs1280788914
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000643557 SCV000765244 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-10-26 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003140009 SCV003821137 uncertain significance not provided 2019-07-11 criteria provided, single submitter clinical testing

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