ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.969C>T (p.Asp323=)

gnomAD frequency: 0.00001  dbSNP: rs1272384074
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001444645 SCV001647655 likely benign not provided 2023-10-04 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820137 SCV002066434 uncertain significance not specified 2017-07-12 criteria provided, single submitter clinical testing

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