ClinVar Miner

Submissions for variant NM_004187.5(KDM5C):c.4039-4G>A

gnomAD frequency: 0.00018  dbSNP: rs371746707
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001521218 SCV001730510 benign Spastic paraplegia 2023-11-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002324122 SCV002626259 benign Inborn genetic diseases 2017-07-21 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.
CeGaT Center for Human Genetics Tuebingen RCV003438863 SCV004166401 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing KDM5C: BP4, BS2

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