ClinVar Miner

Submissions for variant NC_000002.12:g.(?_189078506)_(189081053_?)del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001032450 SCV001195757 uncertain significance Ehlers-Danlos syndrome, classic type 2019-03-12 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 13-16 of the COL5A2 gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with COL5A2-related conditions. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001862452 SCV002142392 uncertain significance Ehlers-Danlos syndrome, classic type, 1 2019-03-11 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has not been reported in the literature in individuals with COL5A2-related conditions. This variant is an in-frame deletion of the genomic region encompassing exons 13-16 of the COL5A2 gene. It preserves the integrity of the reading frame.

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