ClinVar Miner

Submissions for variant NC_000005.10:g.(?_150387882)_(150399068_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000654887 SCV000776791 pathogenic Treacher Collins syndrome 1 2021-08-02 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 18-26 of the TCOF1 gene, which includes the termination codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product. A similar copy number variant has been observed in individual(s) with Treacher Collins syndrome (Invitae). For these reasons, this variant has been classified as Pathogenic.

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