ClinVar Miner

Submissions for variant NM_013266.4(CTNNA3):c.1195C>A (p.Leu399Ile)

gnomAD frequency: 0.00178  dbSNP: rs115276158
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474264 SCV000559856 benign Arrhythmogenic right ventricular dysplasia 13 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV001703178 SCV002004154 likely benign not provided 2021-03-10 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700388 SCV001920414 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001703178 SCV001927125 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001700388 SCV001969218 benign not specified no assertion criteria provided clinical testing

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