ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.53402T>C (p.Ile17801Thr)

gnomAD frequency: 0.00001  dbSNP: rs370929667
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000457362 SCV000542986 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-12-24 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000730007 SCV000857714 uncertain significance not provided 2017-10-26 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000730007 SCV004237411 uncertain significance not provided 2023-03-28 criteria provided, single submitter clinical testing

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