ClinVar Miner

Submissions for variant NM_001354689.3(RAF1):c.983C>T (p.Pro328Leu) (rs5746220)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000226885 SCV000616486 benign Rasopathy 2017-04-18 reviewed by expert panel curation The filtering allele frequency of the c.923C>T (p.Pro308Leu) variant in the RAF1 gene is 1.516% (179/10394) 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 RCV000037711 SCV000061373 benign not specified 2012-04-05 criteria provided, single submitter clinical testing Pro308Leu in exon 9 of RAF1: This variant is not expected to have clinical signi ficance because it has been identified in 1.4% (54/3738) of African American chr omosomes from a broad population by the NHLBI Exome Sequencing Project (http://e vs.gs.washington.edu/EVS/; dbSNP rs5746220).
Invitae RCV000226885 SCV000287746 benign Rasopathy 2020-12-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000324802 SCV000440625 likely benign Noonan syndrome 5 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000358383 SCV000440626 likely benign LEOPARD syndrome 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282779 SCV000604998 benign none provided 2020-08-14 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000037711 SCV000740654 likely benign not specified 2017-06-03 criteria provided, single submitter clinical testing
GeneDx RCV001572934 SCV001859480 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572934 SCV001798060 likely benign not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000037711 SCV001959240 benign not specified no assertion criteria provided clinical testing

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