ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.21497T>G (p.Phe7166Cys)

gnomAD frequency: 0.00001  dbSNP: rs781740874
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000642878 SCV000764565 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-10-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424220 SCV004155277 uncertain significance not provided 2022-04-01 criteria provided, single submitter clinical testing TTN: PM2
GeneDx RCV003424220 SCV004167994 uncertain significance not provided 2023-10-12 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

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