ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.30713A>G (p.Lys10238Arg)

dbSNP: rs780073797
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000250717 SCV000318507 likely benign Cardiovascular phenotype 2020-03-24 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Eurofins Ntd Llc (ga) RCV000270645 SCV000335593 uncertain significance not provided 2015-09-22 criteria provided, single submitter clinical testing

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