ClinVar Miner

Submissions for variant NM_172362.3(KCNH1):c.2136T>C (p.Asp712=)

gnomAD frequency: 0.72879  dbSNP: rs1135317
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001645667 SCV001858793 benign not provided 2018-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730897 SCV001980874 benign Temple-Baraitser syndrome 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730898 SCV001980875 benign Zimmermann-Laband syndrome 1 2021-08-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001645667 SCV002354950 benign not provided 2025-02-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001645667 SCV005286937 benign not provided criteria provided, single submitter not provided

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