ClinVar Miner

Submissions for variant NC_000016.9:g.(?_3823732)_(3824714_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004581551 SCV005066879 pathogenic Rubinstein-Taybi syndrome 2023-10-22 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 12-13 of the CREBBP gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in CREBBP are known to be pathogenic (PMID: 17052327, 18792986). This variant has not been reported in the literature in individuals affected with CREBBP-related conditions. For these reasons, this variant has been classified as Pathogenic.

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