ClinVar Miner

Submissions for variant NM_005633.3(SOS1):c.1964C>T (p.Pro655Leu) (rs56219475)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755394 SCV000605234 benign not provided 2017-05-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV000149843 SCV000196688 benign Rasopathy no assertion criteria provided clinical testing Variant classified using ACMG guidelines
ClinGen RASopathy Variant Curation Expert Panel RCV000149843 SCV000616516 benign Rasopathy 2017-04-18 reviewed by expert panel curation The filtering allele frequency of the c.1964C>T (p.Pro655Leu) variant in the SOS1 gene is 1.153% (803/65674) of European 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)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000038527 SCV000113237 benign not specified 2013-06-07 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center RCV000038527 SCV000207679 benign not specified 2015-01-15 no assertion criteria provided clinical testing
Invitae RCV000149843 SCV000260896 benign Rasopathy 2018-01-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038527 SCV000062205 benign not specified 2006-10-28 criteria provided, single submitter clinical testing
PreventionGenetics RCV000038527 SCV000311187 benign not specified criteria provided, single submitter clinical testing

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