ClinVar Miner

Submissions for variant NC_000020.11:g.(?_10405227)_(10413534_?)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 RCV000708480 SCV000837590 pathogenic Bardet-Biedl syndrome; McKusick-Kaufman syndrome 2018-10-04 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the MKKS gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with MKKS-related disease. Loss-of-function variants in MKKS are known to be pathogenic (PMID: 12107442, 2017770). For these reasons, this variant has been classified as Pathogenic.

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