ClinVar Miner

Submissions for variant NC_000002.11:g.(?_189913190)_(189918176_?)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 RCV001992183 SCV002282412 likely pathogenic Ehlers-Danlos syndrome, classic type, 1 2021-09-27 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant has not been reported in the literature in individuals affected with COL5A2-related conditions. This sequence change is a complex rearrangement that results in the deletion of exons 39-44 and part of exon 38 of the COL5A2 gene. There is some indication that the surrounding sequence could be disrupted, but the exact nature of this event is unknown.

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