ClinVar Miner

Submissions for variant NC_000002.11:g.(?_166152283)_(166246384_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NeuroMeGen, Hospital Clinico Santiago de Compostela RCV000585810 SCV000693822 likely pathogenic Seizures, benign familial infantile, 3 2018-01-01 criteria provided, single submitter clinical testing

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