ClinVar Miner

Submissions for variant NM_000217.3(KCNA1):c.60G>C (p.Gln20His)

gnomAD frequency: 0.00020  dbSNP: rs201504073
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517963 SCV000613832 uncertain significance not provided 2018-08-03 criteria provided, single submitter clinical testing
Invitae RCV000639376 SCV000760948 likely benign Episodic ataxia type 1 2024-01-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000639376 SCV000894790 uncertain significance Episodic ataxia type 1 2018-10-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000517963 SCV001961328 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing KCNA1: PP2, BS2

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