Submissions for variant NM_001288705.3(CSF1R):c.*36A>C

gnomAD frequency: 0.82488  dbSNP: rs2066934

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000305450	SCV000455209	benign	Hereditary diffuse leukoencephalopathy with spheroids	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV001618634	SCV001843781	benign	not provided	2021-05-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001662316	SCV001876354	benign	Brain abnormalities, neurodegeneration, and dysosteosclerosis	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000305450	SCV001876355	benign	Hereditary diffuse leukoencephalopathy with spheroids	2021-07-30	criteria provided, single submitter	clinical testing