ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.28262C>T (p.Thr9421Met)

gnomAD frequency: 0.00003  dbSNP: rs375209383
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172374 SCV000055040 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Eurofins Ntd Llc (ga) RCV000172374 SCV000701372 uncertain significance not provided 2016-09-29 criteria provided, single submitter clinical testing
GeneDx RCV000591182 SCV000714738 likely benign not specified 2018-02-28 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 RCV000642914 SCV000764601 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-10-13 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000172374 SCV003819779 uncertain significance not provided 2019-07-08 criteria provided, single submitter clinical testing

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