ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.2786-18_2786-17dup

dbSNP: rs201957103
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001436708 SCV001639552 likely benign Noonan syndrome 9 2025-02-02 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813597 SCV002060668 benign Noonan syndrome and Noonan-related syndrome 2021-06-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002070274 SCV002497713 benign not provided 2022-03-01 criteria provided, single submitter clinical testing SOS2: BS1, BS2
Genome-Nilou Lab RCV001436708 SCV002763024 benign Noonan syndrome 9 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965836 SCV004783961 benign SOS2-related disorder 2019-09-25 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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