ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.9268A>G (p.Thr3090Ala)

dbSNP: rs2130828886
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Endocrinology Laboratory, Christian Medical College RCV001823841 SCV002073500 uncertain significance Cohen syndrome criteria provided, single submitter clinical testing

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