ClinVar Miner

Submissions for variant NM_002240.5(KCNJ6):c.460G>A (p.Gly154Ser)

dbSNP: rs786204795
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Personalized Medicine, Children's Hospital Los Angeles RCV003156079 SCV003845229 likely pathogenic See cases 2022-12-21 criteria provided, single submitter clinical testing
OMIM RCV000169689 SCV000221226 pathogenic Keppen-Lubinsky syndrome 2015-02-05 no assertion criteria provided literature only

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