ClinVar Miner

Submissions for variant NM_004187.5(KDM5C):c.3442G>A (p.Val1148Met)

gnomAD frequency: 0.00001  dbSNP: rs782205045
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000625767 SCV000746309 likely benign Syndromic X-linked intellectual disability Claes-Jensen type 2023-10-07 criteria provided, single submitter clinical testing
Invitae RCV001855322 SCV002181505 benign Spastic paraplegia 2023-12-07 criteria provided, single submitter clinical testing

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