ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.6587G>A (p.Cys2196Tyr)

gnomAD frequency: 0.00001  dbSNP: rs878854326
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000828321 SCV000970006 uncertain significance not provided 2024-08-12 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000230065 SCV000286785 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-06 criteria provided, single submitter clinical testing

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