ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.2115+7031T>C

gnomAD frequency: 0.00320  dbSNP: rs149267056
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000350480 SCV000336459 benign not specified 2015-10-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001701932 SCV001159613 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001701932 SCV002010954 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001701932 SCV004128355 benign not provided 2024-03-01 criteria provided, single submitter clinical testing KIF1B: PP2, BP4, BS1, BS2
Clinical Genetics, Academic Medical Center RCV000350480 SCV001924695 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701932 SCV001927396 likely benign not provided no assertion criteria provided clinical testing

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