ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.3075+7C>T (rs144391749)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000589301 SCV000525684 benign not provided 2016-11-17 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.
Invitae RCV001086199 SCV000656022 benign Noonan syndrome 9 2020-12-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589301 SCV000698742 benign not provided 2017-04-12 criteria provided, single submitter clinical testing Variant summary: The SOS2 c.3075+7C>T variant involves the alteration of a non-conserved intronic nucleotide. 5/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 1055/121182 control chromosomes (including 7 homozygotes) from ExAC, predominantly observed in the European (Non-Finnish) subpopulation at a frequency of 0.011545 (770/66694). This frequency is about 4618 times the estimated maximal expected allele frequency of a pathogenic SOS2 variant (0.0000025), suggesting this is likely a benign polymorphism found primarily in the populations of European (Non-Finnish) origin. One clinical diagnostic laboratory has classified this variant as benign. The variant of interest has not, to our knowledge, been reported in literature. Taken together, this variant is classified as Benign.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001086199 SCV001471007 benign Noonan syndrome 9 2020-04-08 criteria provided, single submitter clinical testing

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