ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.55659G>A (p.Val18553=)

gnomAD frequency: 0.00063  dbSNP: rs368450420
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000247264 SCV000318801 likely benign Cardiovascular phenotype 2013-06-11 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.
GeneDx RCV000421641 SCV000515145 benign not specified 2015-06-11 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.
Invitae RCV001082213 SCV000555016 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-21 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000731256 SCV000859051 uncertain significance not provided 2018-01-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000421641 SCV001572365 likely benign not specified 2021-04-15 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486794 SCV004239953 benign Cardiomyopathy 2023-06-21 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000421641 SCV001917257 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000731256 SCV001970469 likely benign not provided no assertion criteria provided clinical testing

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