ClinVar Miner

Submissions for variant NM_005633.3(SOS1):c.3330G>C (p.Ser1110=) (rs146383828)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000520406 SCV000616507 likely benign Rasopathy 2017-04-18 reviewed by expert panel curation The filtering allele frequency of the c.3330G>C (p.Ser1110=) variant in the SOS1 gene is 0.0382% (8/10406) of African chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as likely benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BS1; PMID:29493581)
Invitae RCV000520406 SCV000659146 likely benign Rasopathy 2017-07-13 criteria provided, single submitter clinical testing
GeneDx RCV000607376 SCV000724963 likely benign not specified 2017-11-24 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.

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