ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.3081+32A>G

gnomAD frequency: 0.02350  dbSNP: rs6723430
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248515 SCV000311202 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000680650 SCV000808094 benign not provided 2018-06-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV002467617 SCV002763244 benign Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467616 SCV002763245 benign Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000156976 SCV000206698 benign Noonan syndrome 2013-07-17 no assertion criteria provided clinical testing

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