ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.294C>T (p.Thr98=) (rs115746142)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000198732 SCV000309361 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000254475 SCV000319836 benign Cardiovascular phenotype 2015-08-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000467477 SCV000560924 benign not provided 2019-02-22 criteria provided, single submitter clinical testing

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