ClinVar Miner

Submissions for variant NM_004975.4(KCNB1):c.1997C>T (p.Pro666Leu)

gnomAD frequency: 0.00010  dbSNP: rs201212125
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698159 SCV000526864 likely benign not provided 2020-08-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000555745 SCV000655430 benign Developmental and epileptic encephalopathy, 26 2024-12-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001698159 SCV002064051 likely benign not provided 2021-10-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003243123 SCV003965987 likely benign Inborn genetic diseases 2023-05-24 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.
Breakthrough Genomics, Breakthrough Genomics RCV001698159 SCV005209947 likely benign not provided criteria provided, single submitter not provided

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