ClinVar Miner

Submissions for variant NM_005633.3(SOS1):c.2010G>C (p.Leu670Phe) (rs200712930)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000518853 SCV000616515 benign Rasopathy 2017-04-18 reviewed by expert panel curation The filtering allele frequency of the c.2010G>C (p.Leu670Phe) variant in the SOS1 gene is 0.055% (9/8572) of East Asian 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)
Invitae RCV000518853 SCV000776847 likely benign Rasopathy 2020-03-16 criteria provided, single submitter clinical testing

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