ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1545C>T (p.Ala515=)

gnomAD frequency: 0.00034  dbSNP: rs150905302
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002317969 SCV000849510 likely benign Inborn genetic diseases 2017-05-09 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 RCV001085853 SCV001002780 benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2023-11-27 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000862295 SCV001144340 benign not provided 2019-04-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270996 SCV002555359 likely benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270997 SCV002555360 benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing

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