ClinVar Miner

Submissions for variant NM_002834.4(PTPN11):c.1746C>T (p.Asn582=) (rs397516800)

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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 RCV000619648 SCV000740265 likely benign Cardiovascular phenotype 2017-12-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000546916 SCV000659039 likely benign Rasopathy 2017-07-09 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037628 SCV000061290 benign not specified 2015-04-07 criteria provided, single submitter clinical testing p.Asn582Asn in exon 15 of PTPN11: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 4/15702 South As ian chromosomes and 8/63828 European chromosomes by the Exome Aggregation Consor tium (ExAC, http://exac.broadinstitute.org; dbSNP rs397516800 ). Furthermore, it has been identified by our laboratory in an unaffected mother and 2 individuals with features of Noonan syndrome, one of which also carried another variant in PTPN11 sufficient to explain their disease.
PreventionGenetics RCV000037628 SCV000309205 likely benign not specified criteria provided, single submitter clinical testing

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