ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.6163G>A (p.Glu2055Lys)

gnomAD frequency: 0.00003  dbSNP: rs763733251
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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 RCV000458669 SCV000555652 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-10-17 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139673 SCV003826706 uncertain significance not provided 2021-06-02 criteria provided, single submitter clinical testing

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