ClinVar Miner

Submissions for variant NC_000009.12:g.(?_134727246)_(134728827_?)del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000634702 SCV000756037 uncertain significance Ehlers-Danlos syndrome, classic type 2018-02-18 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 5 to 6 of the COL5A1 gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with COL5A1-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae RCV001860497 SCV002178269 uncertain significance Ehlers-Danlos syndrome, classic type, 1 2021-11-02 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 5-6 of the COL5A1 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with COL5A1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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