ClinVar Miner

Submissions for variant NM_002250.3(KCNN4):c.844G>A (p.Val282Met)

dbSNP: rs1057519076
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV000412590 SCV002016769 likely pathogenic Dehydrated hereditary stomatocytosis 2 2023-07-19 criteria provided, single submitter clinical testing
OMIM RCV000412590 SCV000490258 pathogenic Dehydrated hereditary stomatocytosis 2 2015-12-11 no assertion criteria provided literature only

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