ClinVar Miner

Submissions for variant NM_002250.3(KCNN4):c.845T>A (p.Val282Glu)

dbSNP: rs1057519077
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV000412652 SCV002016770 likely pathogenic Dehydrated hereditary stomatocytosis 2 2021-09-13 criteria provided, single submitter clinical testing
OMIM RCV000412652 SCV000490259 pathogenic Dehydrated hereditary stomatocytosis 2 2015-12-11 no assertion criteria provided literature only

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