ClinVar Miner

Submissions for variant NM_145207.3(AFG2A):c.164-1053_446+1328dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000708574 SCV000837696 likely pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 2018-04-18 criteria provided, single submitter clinical testing

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