ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.6274A>C (p.Lys2092Gln)

gnomAD frequency: 0.00001  dbSNP: rs1422079821
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000634104 SCV000755382 uncertain significance Cohen syndrome 2021-09-02 criteria provided, single submitter clinical testing

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