ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.29502A>G (p.Glu9834=)

gnomAD frequency: 0.00001  dbSNP: rs759468315
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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 RCV000536126 SCV000642948 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-02-20 criteria provided, single submitter clinical testing
GeneDx RCV000611230 SCV000726515 likely benign not specified 2018-01-03 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.

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