ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.2628T>C (p.Leu876=)

gnomAD frequency: 0.00356  dbSNP: rs139078977
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 RCV000542054 SCV000632286 benign Early myoclonic encephalopathy 2025-02-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718706 SCV005315782 benign not provided criteria provided, single submitter not provided

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