ClinVar Miner

Submissions for variant NM_004137.4(KCNMB1):c.193G>A (p.Glu65Lys)

gnomAD frequency: 0.08717  dbSNP: rs11739136
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000006304 SCV000026486 protective Hypertension, diastolic, resistance to 2005-01-01 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003982827 SCV004796487 benign KCNMB1-related disorder 2019-11-26 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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