ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.669G>C (p.Ser223=)

gnomAD frequency: 0.01872  dbSNP: rs17215423
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000234137 SCV000288779 benign Spinocerebellar ataxia type 19/22 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000443256 SCV000519454 benign not specified 2016-10-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000620407 SCV000735247 benign Cardiovascular phenotype 2015-07-17 criteria provided, single submitter clinical testing This alteration is classified as 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.
Athena Diagnostics RCV000443256 SCV001476511 benign not specified 2019-11-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487073 SCV002802019 likely benign Spinocerebellar ataxia type 19/22; Brugada syndrome 9 2021-09-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000443256 SCV004028904 benign not specified 2023-07-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004713424 SCV005280380 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000443256 SCV001918718 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000443256 SCV001975437 benign not specified no assertion criteria provided clinical testing

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