ClinVar Miner

Submissions for variant NM_145207.3(AFG2A):c.2159C>T (p.Ala720Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003138614 SCV003824534 uncertain significance Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 2019-01-18 criteria provided, single submitter clinical testing
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University RCV003138614 SCV003838962 likely pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome no assertion criteria provided clinical testing

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