ClinVar Miner

Submissions for variant NM_030962.4(SBF2):c.620G>T (p.Gly207Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Moosajee Lab, UCL Institute of Ophthalmology RCV004556159 SCV005045196 pathogenic Charcot-Marie-Tooth disease type 4B2 criteria provided, single submitter clinical testing The variant has been inherited in compound heterozygous manner with the variant NM_030962.4:c.2536+1G>A

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