ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.5366A>C (p.His1789Pro)

dbSNP: rs974108053
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001210166 SCV001381637 uncertain significance Early myoclonic encephalopathy 2021-08-28 criteria provided, single submitter clinical testing
New York Genome Center RCV001839031 SCV002099378 uncertain significance JMJD1C-associated Neurodevelopmental Disorder 2021-02-19 criteria provided, single submitter clinical testing

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