ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.7365del (p.Cys2455fs)

dbSNP: rs1811766430
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV001251151 SCV001426550 likely pathogenic Cohen syndrome criteria provided, single submitter clinical testing

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