ClinVar Miner

Submissions for variant NM_145207.3(AFG2A):c.1278-10T>C

gnomAD frequency: 0.00016  dbSNP: rs376606287
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000652809 SCV000774681 likely benign Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 2025-01-08 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816639 SCV002065591 uncertain significance not specified 2017-12-15 criteria provided, single submitter clinical testing

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