ClinVar Miner

Submissions for variant NM_001288705.3(CSF1R):c.2720_2722del (p.Cys907del)

dbSNP: rs1757090477
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253191 SCV001428784 uncertain significance Hereditary diffuse leukoencephalopathy with spheroids 2019-06-21 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV003992481 SCV004812165 uncertain significance Leukoencephalopathy, diffuse hereditary, with spheroids 1 2019-06-21 criteria provided, single submitter clinical testing

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