ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.456C>T (p.Arg152=) (rs149898447)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000245385 SCV000319402 benign Cardiovascular phenotype 2015-02-05 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
GeneDx RCV000128045 SCV000171636 benign not specified 2014-05-19 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 RCV000228536 SCV000287841 benign Shprintzen-Goldberg syndrome 2017-07-26 criteria provided, single submitter clinical testing
PreventionGenetics RCV000128045 SCV000309363 benign not specified criteria provided, single submitter clinical testing

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