ClinVar Miner

Submissions for variant NM_004187.5(KDM5C):c.564G>A (p.Lys188=)

gnomAD frequency: 0.01076  dbSNP: rs61751437
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080882 SCV000112784 benign not specified 2013-06-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000080882 SCV000151566 benign not specified 2013-07-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000456337 SCV000562324 benign Spastic paraplegia 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311601 SCV000846525 benign Inborn genetic diseases 2016-05-11 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV001650915 SCV001865624 benign not provided 2020-12-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 15586325, 24583395)
Fulgent Genetics, Fulgent Genetics RCV002477230 SCV002803208 likely benign Syndromic X-linked intellectual disability Claes-Jensen type 2021-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001650915 SCV005279219 benign not provided criteria provided, single submitter not provided

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