ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.1737G>A (p.Thr579=)

gnomAD frequency: 0.00002  dbSNP: rs574981327
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000289759 SCV000471911 likely benign Seizures, benign familial neonatal, 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000344181 SCV000471912 likely benign Benign Neonatal Epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001442986 SCV001645944 likely benign Benign neonatal seizures 2022-07-19 criteria provided, single submitter clinical testing

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