ClinVar Miner

Submissions for variant NM_000217.3(KCNA1):c.611G>A (p.Arg204His)

gnomAD frequency: 0.00063  dbSNP: rs2229000
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000358778 SCV000345284 uncertain significance not provided 2017-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088859 SCV001019417 likely benign Episodic ataxia type 1 2025-01-27 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000358778 SCV001144329 benign not provided 2019-05-31 criteria provided, single submitter clinical testing

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