ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.83017C>A (p.Pro27673Thr)

gnomAD frequency: 0.00001  dbSNP: rs769343491
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000458435 SCV000542780 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-07-03 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000592875 SCV000706380 uncertain significance not provided 2017-02-27 criteria provided, single submitter clinical testing
GeneDx RCV000592875 SCV000969072 likely benign not provided 2018-05-22 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.
Revvity Omics, Revvity RCV000592875 SCV003824914 uncertain significance not provided 2019-08-08 criteria provided, single submitter clinical testing

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