ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.966A>G (p.Pro322=)

gnomAD frequency: 0.00038  dbSNP: rs200728992
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 RCV000545055 SCV000632338 likely benign Early myoclonic encephalopathy 2024-10-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707318 SCV005228072 likely benign not provided criteria provided, single submitter not provided

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