ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.26116G>A (p.Asp8706Asn)

gnomAD frequency: 0.00001  dbSNP: rs377074955
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000249513 SCV000317482 likely benign Cardiovascular phenotype 2013-04-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000560527 SCV000642884 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-06-01 criteria provided, single submitter clinical testing
GeneDx RCV001699276 SCV001988668 uncertain significance not provided 2019-04-15 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001699276 SCV003822320 uncertain significance not provided 2020-12-28 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001699276 SCV001920964 uncertain significance not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001699276 SCV001963314 uncertain significance not provided no assertion criteria provided clinical testing

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