ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.15972G>A (p.Glu5324=)

gnomAD frequency: 0.00001  dbSNP: rs1057522988
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000549386 SCV000530291 likely benign not provided 2018-04-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001439003 SCV001641884 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-09-17 criteria provided, single submitter clinical testing

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