ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.1771A>G (p.Met591Val)

gnomAD frequency: 0.05413  dbSNP: rs41274072
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 RCV000528886 SCV000632279 benign Early myoclonic encephalopathy 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718705 SCV005315784 benign not provided criteria provided, single submitter not provided

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