ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.87+12G>T

gnomAD frequency: 0.00002  dbSNP: rs368569135
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000220265 SCV000270860 likely benign not specified 2015-06-26 criteria provided, single submitter clinical testing c.87+12G>T in intron 1 of SOS1: This variant is not expected to have clinical si gnificance because it is not located within the conserved splice consensus seque nce and splice variants are not a known cause of Noonan syndrome.
Labcorp Genetics (formerly Invitae), Labcorp RCV002057147 SCV002483717 likely benign RASopathy 2022-07-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467681 SCV002763616 likely benign Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467680 SCV002763617 likely benign Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing

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