ClinVar Miner

Submissions for variant NM_014244.5(ADAMTS2):c.47TGC[7] (p.Leu23del)

dbSNP: rs568040559
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000364063 SCV000456896 likely benign Ehlers-Danlos syndrome, dermatosparaxis type 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000481325 SCV000568138 benign not specified 2016-11-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000364063 SCV000647137 uncertain significance Ehlers-Danlos syndrome, dermatosparaxis type 2022-10-05 criteria provided, single submitter clinical testing This variant, c.68_70del, results in the deletion of 1 amino acid(s) of the ADAMTS2 protein (p.Leu23del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with ADAMTS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 353148). 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278607 SCV002565912 benign Ehlers-Danlos syndrome 2021-12-13 criteria provided, single submitter clinical testing

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