ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.1433C>G (p.Pro478Arg)

dbSNP: rs1553356111
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788276 SCV000927330 likely pathogenic not provided 2017-07-10 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813553 SCV002060897 uncertain significance Noonan syndrome and Noonan-related syndrome 2016-12-12 criteria provided, single submitter clinical testing
Institute of Human Genetics, University Hospital Muenster RCV004797872 SCV005419374 uncertain significance See cases 2024-08-27 criteria provided, single submitter clinical testing ACMG categories: PM1,PM2,PP3

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