ClinVar Miner

Submissions for variant NM_015074.3(KIF1B):c.5294C>T (p.Pro1765Leu) (rs61999305)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000514644 SCV000885638 benign not provided 2017-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514644 SCV000610564 likely benign not provided 2017-04-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000226083 SCV000346748 likely benign Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332870 SCV000346749 likely benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000386631 SCV000346750 likely benign Neuroblastoma 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000226083 SCV000290044 benign Charcot-Marie-Tooth disease, type 2 2017-10-26 criteria provided, single submitter clinical testing

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