ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.1722T>C (p.Pro574=)

gnomAD frequency: 0.00001  dbSNP: rs1554622049
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595197 SCV000709196 uncertain significance not provided 2017-06-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532663 SCV003031315 likely benign Benign neonatal seizures 2024-09-27 criteria provided, single submitter clinical testing

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