ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.103830C>T (p.Arg34610=)

gnomAD frequency: 0.00001  dbSNP: rs1321633640
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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 RCV002207334 SCV002362913 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-03-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003138072 SCV003820227 uncertain significance not provided 2022-02-23 criteria provided, single submitter clinical testing

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