ClinVar Miner

Submissions for variant NM_002834.4(PTPN11):c.526-8C>A (rs184804143)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000430276 SCV000511203 likely benign not provided 2016-10-17 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
ClinGen RASopathy Variant Curation Expert Panel RCV000033495 SCV000616445 benign Rasopathy 2017-04-18 reviewed by expert panel curation The filtering allele frequency of the c.526-8C>A variant in the PTPN11 gene is 0.079% (65/66646) of European chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BA1; PMID:29493581)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000037650 SCV000342020 benign not specified 2016-05-31 criteria provided, single submitter clinical testing
GeneDx RCV000033495 SCV000057400 poly Rasopathy criteria provided, single submitter clinical testing Converted during submission to Benign.
Integrated Genetics/Laboratory Corporation of America RCV000030388 SCV000053057 benign Noonan syndrome 2013-10-11 no assertion criteria provided clinical testing
Invitae RCV000033495 SCV000261492 benign Rasopathy 2017-12-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037650 SCV000061312 likely benign not specified 2015-05-18 criteria provided, single submitter clinical testing c.526-8C>A in intron 4 of PTPN11: This variant is not expected to have clinical significance because a change at this position does not diverge from the splice consensus sequence and is therefore unlikely to impact splicing. Furthermore, sp lice variants are not a known mechanism of disease for Noonan syndrome. It has a lso been identified in 0.1% (65/66646) of European chromosomes by the Exome Aggr egation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs184804143).
PreventionGenetics RCV000037650 SCV000309211 likely benign not specified criteria provided, single submitter clinical testing

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