ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.2511-9del

dbSNP: rs727503436
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000530108 SCV000659138 benign RASopathy 2025-01-19 criteria provided, single submitter clinical testing
GeneDx RCV001644668 SCV001857470 benign not provided 2021-03-16 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813508 SCV002060644 likely benign Noonan syndrome and Noonan-related syndrome 2018-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467897 SCV002763292 benign Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467896 SCV002763293 benign Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945338 SCV004758025 likely benign SOS1-related disorder 2022-11-10 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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