ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.1949C>T (p.Thr650Ile)

dbSNP: rs41274068
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000534501 SCV000632280 benign Early myoclonic encephalopathy 2025-01-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003419934 SCV004125483 benign not provided 2024-08-01 criteria provided, single submitter clinical testing JMJD1C: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV003419934 SCV005315783 benign not provided criteria provided, single submitter not provided

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