ClinVar Miner

Submissions for variant NM_004187.5(KDM5C):c.4611G>A (p.Ser1537=)

gnomAD frequency: 0.00008  dbSNP: rs149733911
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192886 SCV000247689 uncertain significance not specified 2015-01-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336511 SCV002635485 likely benign Inborn genetic diseases 2014-07-25 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002517089 SCV002935531 likely benign Spastic paraplegia 2024-02-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000192886 SCV005423227 likely benign not specified 2024-10-15 criteria provided, single submitter clinical testing

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