ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.98500G>A (p.Glu32834Lys)

gnomAD frequency: 0.00037  dbSNP: rs199761901
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Total submissions: 7
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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 RCV000172608 SCV000051308 likely benign not provided 2013-06-24 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001079964 SCV000555248 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-02-02 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000172608 SCV000708842 uncertain significance not provided 2017-05-24 criteria provided, single submitter clinical testing
GeneDx RCV000172608 SCV001785586 likely benign not provided 2021-06-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25163546)
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798621 SCV002043087 benign Cardiomyopathy 2020-12-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372079 SCV002667927 benign Cardiovascular phenotype 2020-05-28 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 RCV000172608 SCV003818539 uncertain significance not provided 2022-06-14 criteria provided, single submitter clinical testing

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