ClinVar Miner

Submissions for variant NM_004977.3(KCNC3):c.1876G>C (p.Gly626Arg)

dbSNP: rs368232448
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002207929 SCV002378932 benign not provided 2023-09-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV003161434 SCV003877849 likely benign Inborn genetic diseases 2023-02-15 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.
CeGaT Center for Human Genetics Tuebingen RCV002207929 SCV004140533 benign not provided 2022-06-01 criteria provided, single submitter clinical testing KCNC3: BS1, BS2
Revvity Omics, Revvity RCV003485761 SCV004235860 uncertain significance Spinocerebellar ataxia type 13 2023-10-27 criteria provided, single submitter clinical testing

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