ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.2115+6183T>C

gnomAD frequency: 0.00357  dbSNP: rs149241091
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001702890 SCV001477525 benign not provided 2023-10-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001702890 SCV002820993 benign not provided 2024-04-01 criteria provided, single submitter clinical testing KIF1B: BP4, BP7, BS1, BS2
Clinical Genetics, Academic Medical Center RCV001699529 SCV001924246 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702890 SCV001930123 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702890 SCV001971152 likely benign not provided no assertion criteria provided clinical testing

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