ClinVar Miner

Submissions for variant NM_002834.4(PTPN11):c.486C>T (p.Asp162=) (rs397507522)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000033493 SCV000057398 poly Rasopathy criteria provided, single submitter clinical testing Converted during submission to Benign.
Ambry Genetics RCV000244264 SCV000320303 likely benign Cardiovascular phenotype 2015-10-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification
Invitae RCV000858959 SCV000560641 likely benign not provided 2018-12-05 criteria provided, single submitter clinical testing

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