ClinVar Miner

Submissions for variant NM_002834.4(PTPN11):c.951G>A (p.Lys317=) (rs576405446)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000522223 SCV000616448 benign Rasopathy 2017-04-18 reviewed by expert panel curation The filtering allele frequency of the c.951G>A (p.Lys317=) variant in the PTPN11 gene is 0.231% (49/16480) of South Asian 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)
Illumina Clinical Services Laboratory,Illumina RCV000382358 SCV000376326 uncertain significance Metachondromatosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000289778 SCV000376327 uncertain significance Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347113 SCV000376328 uncertain significance Noonan syndrome with multiple lentigines 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719834 SCV000850705 likely benign History of neurodevelopmental disorder 2017-06-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000868354 SCV001009670 benign not provided 2018-08-03 criteria provided, single submitter clinical testing

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