ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.25937G>A (p.Arg8646His)

gnomAD frequency: 0.00010  dbSNP: rs144587343
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000247665 SCV000318160 likely benign Cardiovascular phenotype 2013-01-08 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.
Invitae RCV000546610 SCV000642880 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-06-19 criteria provided, single submitter clinical testing
GeneDx RCV001711762 SCV000729072 likely benign not provided 2020-08-05 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV001711762 SCV003822328 uncertain significance not provided 2022-06-15 criteria provided, single submitter clinical testing

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