ClinVar Miner

Submissions for variant NM_001354689.3(RAF1):c.581+4A>G (rs201776526)

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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 RCV000518884 SCV000616489 likely benign Rasopathy 2017-04-18 reviewed by expert panel curation The filtering allele frequency of the c.581+4A>G variant in the RAF1 gene is 0.0375% (34/66642) of European 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)
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000591245 SCV000706477 likely benign not specified 2017-03-23 criteria provided, single submitter clinical testing
Invitae RCV000518884 SCV001011103 benign Rasopathy 2020-05-06 criteria provided, single submitter clinical testing

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