ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.6046+1G>C

dbSNP: rs750003804
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV001002696 SCV001156397 pathogenic Cohen syndrome 2019-02-01 criteria provided, single submitter clinical testing
Genomics England Pilot Project, Genomics England RCV001002696 SCV001760205 likely pathogenic Cohen syndrome no assertion criteria provided clinical testing

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