ClinVar Miner

Submissions for variant NM_002880.3(RAF1):c.-267G>A (rs116247741)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000291471 SCV000440653 uncertain significance Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344111 SCV000440654 uncertain significance Noonan syndrome with multiple lentigines 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154580 SCV000204253 likely benign not specified 2011-11-17 criteria provided, single submitter clinical testing This variant is located in the 5'UTR and variants in regulatory regions could ha ve an effect on transcriptional or translational efficiency. However, variants o f this type have not been reported in Noonan spectrum disorders to date. In addi tion, this variant has now been identified in 2/58 (3.4%) Black probands tested by our laboratory, including one proband with a pathogenic PTPN11 variant. This variant may be common in the Black population and therefore unlikely to be patho genic.

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