ClinVar Miner

Submissions for variant NM_015074.3(KIF1B):c.3507G>A (p.Pro1169=) (rs147318592)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177655 SCV000229557 likely benign not specified 2015-04-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000198749 SCV000346685 likely benign Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000316587 SCV000346686 likely benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000373531 SCV000346687 likely benign Neuroblastoma 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000198749 SCV000252830 benign Charcot-Marie-Tooth disease, type 2 2017-11-18 criteria provided, single submitter clinical testing

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