ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.186G>A (p.Pro62=)

gnomAD frequency: 0.00001  dbSNP: rs1411627342
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000994072 SCV000715228 likely benign not provided 2020-03-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621298 SCV000737895 likely benign Cardiovascular phenotype 2017-01-31 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 RCV000994072 SCV001147377 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002529394 SCV003298250 likely benign Spinocerebellar ataxia type 19/22 2023-07-19 criteria provided, single submitter clinical testing

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