ClinVar Miner

Submissions for variant NC_000023.10:g.(?_133511648)_(133559360_?)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 RCV003122871 SCV003795732 pathogenic Borjeson-Forssman-Lehmann syndrome 2022-08-25 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the PHF6 gene has been identified. Loss-of-function variants in PHF6 are known to be pathogenic (PMID: 12415272, 24092917, 25099957, 26648834). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. A similar copy number variant has been observed in individual(s) with Borjeson–Forssman–Lehmann syndrome (PMID: 24092917). For these reasons, this variant has been classified as Pathogenic.

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