ClinVar Miner

Submissions for variant NM_001001344.3(ATP2B3):c.3284G>A (p.Arg1095Gln)

gnomAD frequency: 0.00001  dbSNP: rs782067205
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000790994 SCV000930254 uncertain significance X-linked progressive cerebellar ataxia 2019-04-27 criteria provided, single submitter clinical testing

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