ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.100049C>T (p.Thr33350Ile)

gnomAD frequency: 0.00016  dbSNP: rs370300135
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000467005 SCV000542312 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-03-14 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727163 SCV000706271 uncertain significance not provided 2017-02-07 criteria provided, single submitter clinical testing
GeneDx RCV000727163 SCV000730438 likely benign not provided 2020-09-14 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31983221, 26062443)
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852782 SCV000995505 likely benign Cardiomyopathy 2018-02-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379415 SCV002669206 benign Cardiovascular phenotype 2020-08-17 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Revvity Omics, Revvity RCV000727163 SCV003821062 uncertain significance not provided 2020-01-04 criteria provided, single submitter clinical testing

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