ClinVar Miner

Submissions for variant NM_001256789.3(CACNA1F):c.761T>C (p.Ile254Thr)

gnomAD frequency: 0.00018  dbSNP: rs202029187
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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 RCV001045401 SCV001209250 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001045401 SCV005192420 uncertain significance not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001045401 SCV001742843 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001045401 SCV001975675 uncertain significance not provided no assertion criteria provided clinical testing

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