ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.98893G>A (p.Asp32965Asn)

dbSNP: rs186405108
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000768845 SCV000900218 uncertain significance Cardiomyopathy 2016-07-12 criteria provided, single submitter clinical testing
GeneDx RCV001592951 SCV001825784 likely benign not provided 2020-02-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002370028 SCV002662260 likely benign Cardiovascular phenotype 2020-04-14 criteria provided, single submitter clinical testing This alteration is classified as likely 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 RCV001592951 SCV003822917 uncertain significance not provided 2019-05-06 criteria provided, single submitter clinical testing

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