ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.2048A>T (p.Gln683Leu)

dbSNP: rs372585253
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000702421 SCV000831275 likely benign Cohen syndrome 2024-01-04 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001507742 SCV001713477 uncertain significance not provided 2021-01-20 criteria provided, single submitter clinical testing
GeneDx RCV001507742 SCV002588043 uncertain significance not provided 2022-04-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV000702421 SCV002079500 uncertain significance Cohen syndrome 2019-11-11 no assertion criteria provided clinical testing

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