ClinVar Miner

Submissions for variant NM_006736.6(DNAJB2):c.446-17C>G

gnomAD frequency: 0.00001  dbSNP: rs760786001
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173844 SCV001336960 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV002068095 SCV002390483 likely benign Neuronopathy, distal hereditary motor, autosomal recessive 5 2023-09-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002068095 SCV003799840 likely benign Neuronopathy, distal hereditary motor, autosomal recessive 5 2022-03-02 criteria provided, single submitter clinical testing

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