ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.1041G>A (p.Ser347=)

dbSNP: rs369361457
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003389661 SCV001147376 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing KCND3: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV001402272 SCV001604117 likely benign Spinocerebellar ataxia type 19/22 2023-10-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390765 SCV002704762 likely benign Cardiovascular phenotype 2020-03-11 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.
Fulgent Genetics, Fulgent Genetics RCV002501244 SCV002807147 likely benign Spinocerebellar ataxia type 19/22; Brugada syndrome 9 2021-09-15 criteria provided, single submitter clinical testing

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