ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.2674-9dup

dbSNP: rs532594344
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000654998 SCV000721314 benign not provided 2021-01-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001473620 SCV001677774 likely benign RASopathy 2024-01-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467930 SCV002763272 likely benign Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467929 SCV002763273 likely benign Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483689 SCV002796739 likely benign Fibromatosis, gingival, 1; Noonan syndrome 4 2022-01-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003917921 SCV004728029 likely benign SOS1-related disorder 2021-08-03 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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