ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.53976C>G (p.Gly17992=)

dbSNP: rs1553682339
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000528509 SCV000643351 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000608168 SCV000717323 likely benign not specified 2017-10-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770010 SCV000901436 likely benign Cardiomyopathy 2017-10-30 criteria provided, single submitter clinical testing

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