ClinVar Miner

Submissions for variant NM_002250.3(KCNN4):c.904A>T (p.Met302Leu)

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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 RCV003493050 SCV004235878 uncertain significance Dehydrated hereditary stomatocytosis 2 2023-06-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003984373 SCV004796786 uncertain significance KCNN4-related disorder 2024-02-14 no assertion criteria provided clinical testing The KCNN4 c.904A>T variant is predicted to result in the amino acid substitution p.Met302Leu. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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