ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.1703A>T (p.Asp568Val)

gnomAD frequency: 0.00041  dbSNP: rs201464655
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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 RCV000550628 SCV000632278 likely benign Early myoclonic encephalopathy 2025-02-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707317 SCV005228071 likely benign not provided criteria provided, single submitter not provided
CeGaT Center for Human Genetics Tuebingen RCV004707317 SCV005432988 likely benign not provided 2024-09-01 criteria provided, single submitter clinical testing JMJD1C: BP4, BS2

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