ClinVar Miner

Submissions for variant NM_001112741.2(KCNC1):c.548C>G (p.Pro183Arg)

dbSNP: rs1848768884
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001053586 SCV001217855 uncertain significance Progressive myoclonic epilepsy type 7 2021-08-24 criteria provided, single submitter clinical testing
Baylor Genetics RCV001053586 SCV001525268 uncertain significance Progressive myoclonic epilepsy type 7 2020-10-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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