ClinVar Miner

Submissions for variant NM_145207.3(AFG2A):c.2265A>G (p.Thr755=)

gnomAD frequency: 0.00001  dbSNP: rs776495677
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002214328 SCV002497282 likely benign not provided 2022-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003093850 SCV003345522 likely benign Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 2022-08-21 criteria provided, single submitter clinical testing

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