ClinVar Miner

Submissions for variant NM_001330723.2(SNX27):c.1240-5_1240-4insCT

dbSNP: rs1553266104
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
Invitae RCV001486800 SCV001691278 likely benign Severe myoclonic epilepsy in infancy 2024-01-19 criteria provided, single submitter clinical testing

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