ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.25971A>T (p.Gly8657=)

dbSNP: rs1060500547
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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 RCV000463225 SCV000542961 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-07-18 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV005404578 SCV006065143 likely benign not specified 2025-04-09 criteria provided, single submitter clinical testing

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