ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.2786-17_2786-16insTC

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001175491 SCV001339084 likely benign not specified 2020-03-30 criteria provided, single submitter clinical testing Variant summary: SOS2 c.2786-17_2786-16insCT alters a nucleotide located close to a canonical splice site. This region is a low complexity region with poly Ts. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 69212 control chromosomes. To our knowledge, no occurrence of c.2786-17_2786-16insCT in individuals affected with Noonan Syndrome and Related Conditions and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely benign.

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