ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.1123G>A (p.Gly375Arg)

dbSNP: rs1554829003
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623526 SCV000741573 uncertain significance Inborn genetic diseases 2016-08-01 criteria provided, single submitter clinical testing
Centre of Medical Genetics, University of Antwerp RCV000991268 SCV001448194 likely pathogenic Liang-Wang syndrome 2020-11-16 criteria provided, single submitter curation
Revvity Omics, Revvity RCV001783118 SCV002023215 pathogenic not provided 2021-02-12 criteria provided, single submitter clinical testing
OMIM RCV000991268 SCV001142648 pathogenic Liang-Wang syndrome 2020-01-10 no assertion criteria provided literature only

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