ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.68341G>A (p.Glu22781Lys)

gnomAD frequency: 0.00006  dbSNP: rs760286642
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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 RCV000462841 SCV000543050 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-08-03 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139644 SCV003822166 uncertain significance not provided 2020-09-18 criteria provided, single submitter clinical testing

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