ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.80A>G (p.Gln27Arg)

dbSNP: rs1587912461
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV001004101 SCV001162829 likely pathogenic Cohen syndrome 2019-06-11 criteria provided, single submitter clinical testing

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