ClinVar Miner

Submissions for variant NC_000016.10:g.(?_15703981)_(15838262_?)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 RCV000813335 SCV000953693 pathogenic Aortic aneurysm, familial thoracic 4 2019-07-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MYH11 are known to be pathogenic (PMID: 25407000, 29575632). Isolated whole-gene deletions of MYH11 have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 27884122, 29179725, 22318994). A gross deletion of the genomic region encompassing the full coding sequence of the MYH11 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.

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