ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.76987G>A (p.Asp25663Asn) (rs143186270)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172635 SCV000054934 likely benign not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000260684 SCV000237564 likely benign not specified 2017-12-08 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 RCV000249719 SCV000319131 likely benign Cardiovascular phenotype 2020-06-10 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000172635 SCV000332115 uncertain significance not provided 2015-06-11 criteria provided, single submitter clinical testing
Invitae RCV001080773 SCV000765380 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-09-15 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000172635 SCV001146489 likely benign not provided 2018-10-30 criteria provided, single submitter clinical testing

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