ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.2388C>T (p.Asn796=)

gnomAD frequency: 0.00003  dbSNP: rs957388952
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420788 SCV000535092 likely benign not specified 2016-12-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CeGaT Center for Human Genetics Tuebingen RCV002060074 SCV002497992 likely benign not provided 2022-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002522656 SCV003295761 likely benign Benign neonatal seizures 2023-10-22 criteria provided, single submitter clinical testing

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