ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.364G>T (p.Val122Phe)

dbSNP: rs376125239
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
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000678802 SCV000804983 uncertain significance Pyridoxine-dependent epilepsy 2017-05-19 criteria provided, single submitter clinical testing

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