ClinVar Miner

Submissions for variant NM_019842.4(KCNQ5):c.730C>T (p.Arg244Cys)

dbSNP: rs1314919218
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002250068 SCV002516609 pathogenic Intellectual disability, autosomal dominant 46 2022-05-04 criteria provided, single submitter clinical testing
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV002250068 SCV004032485 uncertain significance Intellectual disability, autosomal dominant 46 2023-03-21 criteria provided, single submitter clinical testing

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