ClinVar Miner

Submissions for variant NM_005633.3(SOS1):c.2997T>C (p.Asn999=) (rs145364368)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000228789 SCV000616509 benign Rasopathy 2017-04-18 reviewed by expert panel curation The filtering allele frequency of the c.2997T>C (p.Asn999=) variant in the SOS1 gene is 1.009% (120/10162) of African chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BA1; PMID:29493581)
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038543 SCV000062221 benign not specified 2011-06-01 criteria provided, single submitter clinical testing Asn999Asn in exon 19 of SOS1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located near a splice junction. This variant has been observed in up to 6% (N=75) of Black p robands tested by our laboratory. In addition, this variant has been identified in one individual with a second pathogenic variant.
Genetic Services Laboratory, University of Chicago RCV000038543 SCV000249010 likely benign not specified 2015-07-27 criteria provided, single submitter clinical testing
Invitae RCV000858518 SCV000288963 benign not provided 2019-03-01 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000038543 SCV000311199 benign not specified criteria provided, single submitter clinical testing

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