ClinVar Miner

Submissions for variant NM_001001344.3(ATP2B3):c.2770A>G (p.Thr924Ala)

dbSNP: rs2124491843
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University RCV001420157 SCV001622424 likely pathogenic X-linked progressive cerebellar ataxia 2021-05-13 criteria provided, single submitter clinical testing

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