ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.102696C>T (p.Val34232=)

gnomAD frequency: 0.00027  dbSNP: rs202180775
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000184117 SCV000236701 benign not specified 2014-08-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000249663 SCV000318126 likely benign Cardiovascular phenotype 2013-01-04 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.
Invitae RCV001089410 SCV000555631 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-29 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000725665 SCV000701070 uncertain significance not provided 2017-01-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000184117 SCV004029877 likely benign not specified 2023-07-09 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000184117 SCV001925869 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000725665 SCV001959214 likely benign not provided no assertion criteria provided clinical testing

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