ClinVar Miner

Submissions for variant NM_002250.3(KCNN4):c.970A>G (p.Met324Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002956680 SCV003693841 uncertain significance Inborn genetic diseases 2021-08-02 criteria provided, single submitter clinical testing The c.970A>G (p.M324V) alteration is located in exon 6 (coding exon 6) of the KCNN4 gene. This alteration results from a A to G substitution at nucleotide position 970, causing the methionine (M) at amino acid position 324 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003492816 SCV004235880 uncertain significance Dehydrated hereditary stomatocytosis 2 2023-02-13 criteria provided, single submitter clinical testing

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