ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11996A>G (p.Asn3999Ser) (rs199844346)

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Total submissions: 4
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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 RCV000172420 SCV000055080 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Ambry Genetics RCV000247167 SCV000320032 likely benign Cardiovascular phenotype 2019-06-21 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
GeneDx RCV000612413 SCV000714310 likely benign not specified 2017-12-18 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000172420 SCV001153106 uncertain significance not provided 2019-10-01 criteria provided, single submitter clinical testing

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