ClinVar Miner

Submissions for variant NM_002246.3(KCNK3):c.342G>A (p.Ala114=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002583214 SCV002934833 likely benign Pulmonary hypertension, primary, 4 2024-10-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003933804 SCV004750582 likely benign KCNK3-related disorder 2019-06-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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