ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.1203-13T>A

gnomAD frequency: 0.00049  dbSNP: rs145166996
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Total submissions: 7
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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 RCV000218682 SCV000270857 likely benign not specified 2015-06-26 criteria provided, single submitter clinical testing c.1203-13T>A in intron 9 of SOS1: This variant is not expected to have clinical significance because it has been identified in 0.1% (12/9406) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs145166996) and splice variants are not a known mechanism of disease for Noonan syndrome.
GeneDx RCV001711995 SCV001944519 benign not provided 2019-03-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054954 SCV002327199 benign RASopathy 2024-01-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000218682 SCV002548386 benign not specified 2022-05-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467677 SCV002763453 benign Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467676 SCV002763454 benign Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001711995 SCV005263397 likely benign not provided criteria provided, single submitter not provided

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