ClinVar Miner

Submissions for variant NM_001112741.1(KCNC1):c.933C>T (p.Arg311=) (rs76882721)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001081738 SCV000774367 benign Epilepsy, progressive myoclonic 7 2020-12-02 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712115 SCV000842536 benign not provided 2017-09-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718160 SCV000849022 likely benign Seizures 2016-07-28 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign

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