ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.1652-9T>A

gnomAD frequency: 0.00005  dbSNP: rs375615155
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768133 SCV000899078 uncertain significance Cohen syndrome 2021-03-30 criteria provided, single submitter clinical testing VPS13B NM_017890 exon 13 c.1652-9T>A: This variant has not been reported in the literature but is present in 5/23598 African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs375615155). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant with no predicted change in the amino acid sequence but may have an unknown effect on splicing. Further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Invitae RCV000768133 SCV001651570 likely benign Cohen syndrome 2024-01-19 criteria provided, single submitter clinical testing

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