ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.978C>T (p.Cys326=)

gnomAD frequency: 0.10918  dbSNP: rs11568186
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000117628 SCV000312420 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000263376 SCV000439233 benign Megalencephalic leukoencephalopathy with subcortical cysts 1 2018-01-13 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001510891 SCV001718042 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001510891 SCV001910350 benign not provided 2018-09-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000263376 SCV002014219 benign Megalencephalic leukoencephalopathy with subcortical cysts 1 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001510891 SCV005275839 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000117628 SCV000151860 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Natera, Inc. RCV001831908 SCV002076174 benign Megalencephalic leukoencephalopathy with subcortical cysts 2019-11-20 no assertion criteria provided clinical testing

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