ClinVar Miner

Submissions for variant NC_000016.9:g.(?_15832402)_(15850391_?)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 RCV003122381 SCV003790967 pathogenic Aortic aneurysm, familial thoracic 4 2022-05-14 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 15-25 of the MYH11 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 MYH11 are known to be pathogenic (PMID: 25407000, 29575632). This variant has not been reported in the literature in individuals affected with MYH11-related conditions. For these reasons, this variant has been classified as Pathogenic.

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