ClinVar Miner

Submissions for variant NM_018668.5(VPS33B):c.1246C>T (p.Arg416Ter)

gnomAD frequency: 0.00001  dbSNP: rs780626848
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000598122 SCV000706929 pathogenic not provided 2017-03-14 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV003227804 SCV003925616 pathogenic Keratoderma-ichthyosis-deafness syndrome, autosomal recessive 2023-04-26 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous with NM_018668.5:c.390_392delinsAGA._x000D_ Criteria applied: PVS1, PM3, PM2_SUP, PP4
Mayo Clinic Laboratories, Mayo Clinic RCV000598122 SCV005414301 pathogenic not provided 2023-09-01 criteria provided, single submitter clinical testing PM2, PM3, PS4_moderate, PVS1

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