ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.11957T>A (p.Met3986Lys)

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Total submissions: 1
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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 RCV003224757 SCV003920622 uncertain significance Cohen syndrome 2022-03-18 criteria provided, single submitter clinical testing This variant has not been reported in the literature and is not present in large control databases. Splice prediction tools suggest that this variant may affect splicing. However, 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.

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