ClinVar Miner

Submissions for variant NM_004187.5(KDM5C):c.2112G>A (p.Glu704=)

gnomAD frequency: 0.00005  dbSNP: rs782570746
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000863535 SCV001004217 benign Spastic paraplegia 2024-05-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478958 SCV002801564 likely benign Syndromic X-linked intellectual disability Claes-Jensen type 2021-09-30 criteria provided, single submitter clinical testing

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