ClinVar Miner

Submissions for variant NM_145207.3(AFG2A):c.1822_1824del (p.Asp608del)

dbSNP: rs1725528788
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001264811 SCV001443004 likely pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 2020-03-01 criteria provided, single submitter clinical testing Review of the variants reported in Reuter et al., 2017, PMID: 28097321: PM2,PM3_Supporting,PM5,PP3

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