ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.2129A>G (p.Tyr710Cys)

dbSNP: rs1060500605
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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 RCV000474531 SCV000543206 likely benign Benign neonatal seizures 2023-06-26 criteria provided, single submitter clinical testing
Baylor Genetics RCV001331249 SCV001523247 uncertain significance Seizures, benign familial neonatal, 2 2020-09-17 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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