ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.268G>A (p.Asp90Asn) (rs796052488)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987626 SCV001137018 likely pathogenic Juvenile myoclonic epilepsy 2019-05-28 criteria provided, single submitter clinical testing

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