ClinVar Miner

Submissions for variant NM_002880.4(RAF1):c.581+4A>G

gnomAD frequency: 0.00087  dbSNP: rs201776526
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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 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)
Eurofins Ntd Llc (ga) RCV000591245 SCV000706477 likely benign not specified 2017-03-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000518884 SCV001011103 benign RASopathy 2024-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002358401 SCV002647417 likely benign Cardiovascular phenotype 2021-10-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002490896 SCV002795344 benign LEOPARD syndrome 2; Noonan syndrome 5; Dilated cardiomyopathy 1NN 2021-07-05 criteria provided, single submitter clinical testing

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