ClinVar Miner

Submissions for variant NM_001288705.3(CSF1R):c.2132+5C>T

dbSNP: rs17110908
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000354126 SCV000455230 benign Hereditary diffuse leukoencephalopathy with spheroids 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001521045 SCV001730295 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001521045 SCV001900110 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001521045 SCV002035202 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001795971 SCV002037071 benign not specified no assertion criteria provided clinical testing

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