ClinVar Miner

Submissions for variant NM_006736.6(DNAJB2):c.298G>A (p.Glu100Lys) (rs139406455)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556833 SCV000652823 benign Spinal muscular atrophy, distal, autosomal recessive, 5 2019-12-31 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173840 SCV001336956 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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