ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.2721GGA[9] (p.Glu916_Glu917del)

dbSNP: rs10594016
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192609 SCV000247720 uncertain significance not specified 2014-06-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001668362 SCV001159568 benign not provided 2023-11-09 criteria provided, single submitter clinical testing
GeneDx RCV001668362 SCV001882727 benign not provided 2016-07-22 criteria provided, single submitter clinical testing
Mendelics RCV000192609 SCV002518478 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001668362 SCV004698425 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing KIF1A: PM4, BS1

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