ClinVar Miner

Submissions for variant NM_004187.5(KDM5C):c.2243+11G>T

gnomAD frequency: 0.81756  dbSNP: rs1977364
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080872 SCV000112774 benign not specified 2013-06-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001510190 SCV001717164 benign Spastic paraplegia 2025-02-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730507 SCV001980951 benign Syndromic X-linked intellectual disability Claes-Jensen type 2021-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004713232 SCV005279214 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000080872 SCV001741474 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000080872 SCV001955176 benign not specified no assertion criteria provided clinical testing

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