Submissions for variant NM_002880.4(RAF1):c.-201C>A

gnomAD frequency: 0.00073  dbSNP: rs532668125

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000151722	SCV000200056	benign	not specified	2012-03-16	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001144428	SCV001305025	uncertain significance	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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina	RCV001144429	SCV001305026	uncertain significance	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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx	RCV001636612	SCV001848122	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001636612	SCV004146981	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	RAF1: BS1