ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.792C>T (p.Tyr264=)

gnomAD frequency: 0.00015  dbSNP: rs143399744
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720208 SCV000525141 likely benign not provided 2018-06-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002318443 SCV000851256 likely benign Inborn genetic diseases 2016-09-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV000863497 SCV001004168 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-11-18 criteria provided, single submitter clinical testing

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