ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.947C>G (p.Pro316Arg)

gnomAD frequency: 0.00001  dbSNP: rs1885702697
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001730065 SCV001976869 uncertain significance Noonan syndrome 9 2021-10-06 criteria provided, single submitter clinical testing PM1, PM2, PP3

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