ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.3004A>C (p.Asn1002His)

gnomAD frequency: 0.00007  dbSNP: rs761151454
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001465077 SCV001669060 likely benign Early myoclonic encephalopathy 2023-04-28 criteria provided, single submitter clinical testing

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