ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.64683C>G (p.Gly21561=)

dbSNP: rs542156552
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726792 SCV000703079 uncertain significance not provided 2016-11-06 criteria provided, single submitter clinical testing
GeneDx RCV000591151 SCV000718682 likely benign not specified 2017-04-18 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.
Invitae RCV001468362 SCV001672406 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-10-06 criteria provided, single submitter clinical testing

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