ClinVar Miner

Submissions for variant NC_000011.10:g.17445123_17455212del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital RCV004799722 SCV005414528 pathogenic Permanent neonatal diabetes mellitus 2024-10-01 criteria provided, single submitter clinical testing 1A (0 points): Contains protein-coding or other known functionally important elements 2E (PVS1 0.9 points): Both breakpoints are within the same gene (intragenic CNV; gene-level sequence variant) 3A (0 points): Number of protein-coding RefSeq genes wholly or partially included in the copy number loss is 0-24 genes 5G (0.1 points): Inheritance information is unavailable or uninformative. The patient phenotype is non-specific, but is consistent with what has been described in similar cases.

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