ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.232G>A (p.Gly78Arg) (rs1561571575)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics laboratory, University of Goettingen RCV000767857 SCV000864210 uncertain significance Sensorineural hearing loss; Seizures; Intellectual disability 2019-01-09 no assertion criteria provided clinical testing The variant has not been previously described in association with disease, but segregates with the disorder in this family.

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