ClinVar Miner

Submissions for variant NM_002250.3(KCNN4):c.43C>G (p.Arg15Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center RCV003325631 SCV004031434 uncertain significance Dehydrated hereditary stomatocytosis 2 2023-09-05 criteria provided, single submitter clinical testing

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