ClinVar Miner

Submissions for variant NC_000012.11:g.(?_114837390)_(114846189_?)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 RCV001980219 SCV002245457 pathogenic Aortic valve disease 2 2020-11-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with TBX5-related conditions. This variant results in the deletion of exon(s) 2-3 and part of exon 4 (c.-609_290del) of the TBX5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TBX5 are known to be pathogenic (PMID: 16183809, 16917909).

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