ClinVar Miner

Submissions for variant NM_004977.3(KCNC3):c.123G>T (p.Gln41His)

gnomAD frequency: 0.04227  dbSNP: rs185017345
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000335687 SCV000337458 likely benign not specified 2017-01-26 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000335687 SCV000613839 benign not specified 2017-06-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000947995 SCV001094189 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000947995 SCV001846974 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000947995 SCV005205872 likely benign not provided criteria provided, single submitter not provided

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