ClinVar Miner

Submissions for variant NM_145207.3(AFG2A):c.2166_2176del (p.Ser722_Ile723insTer)

dbSNP: rs1730786293
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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 RCV001842258 SCV002102447 likely pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 2022-02-17 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PVS1, PM2_SUP

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