ClinVar Miner

Submissions for variant NM_014727.3(KMT2B):c.7348C>T (p.Arg2450Ter)

dbSNP: rs1568384928
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomics England Pilot Project, Genomics England RCV001542502 SCV001760446 likely pathogenic Dystonia 28, childhood-onset no assertion criteria provided clinical testing

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