ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.1017G>T (p.Val339=)

gnomAD frequency: 0.00016  dbSNP: rs770408379
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194610 SCV000247646 uncertain significance not specified 2015-02-18 criteria provided, single submitter clinical testing
Invitae RCV000901053 SCV001045403 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000194610 SCV004100137 likely benign not specified 2023-09-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000901053 SCV004562580 likely benign not provided 2023-09-22 criteria provided, single submitter clinical testing

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